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'en:usually symptomatic in adulthood with history of weakness since infancy or childhood'
(id=8038018 ; fe=en:usually symptomatic in adulthood with history of weakness since infancy or childhood ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=151727 creation date=2017-07-20 touchdate=2025-07-25 19:06:51.000)
≈ 5601 relations sortantes

  1. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:a nonspecific marker of somatic mosaicism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=43
  2. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:about half of patients become wheelchair bound after long duration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=43
  3. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:affected females have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=43
  4. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:affects up to 10% of women in their reproductive years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=43
  5. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:allelic to brachydactyly, type a1 (112500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=43
  6. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:allelic to brachydactyly, type a2 (112600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=43
  7. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:allelic to senior-loken syndrome 4 (606996)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=43
  8. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:allelic with smith-mccort dysplasia (607326)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=43
  9. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:also called 'heterozygous osmed' and 'autosomal dominant osmed'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=43
  10. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:autosomal recessive inheritance has been suggested
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=43
  11. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:de novo mutations occur almost exclusively on the paternally derived x chromosome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=43
  12. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:diabetes mellitus develops in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=43
  13. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:disease usually progresses in a cephalocaudal direction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=43
  14. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:early death from infection may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=43
  15. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:estimated prevalence of 1 in 16,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=43
  16. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:fatal in first few months of life in most cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=43
  17. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:favorable response to l-dopa treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=43
  18. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:favorable response to rituxan (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=43
  19. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:febrile illness may precipitate attacks of weakness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:febrile illness may precipitate attacks of weakness | rel=r_associated | relid=0 | w=43
  20. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:females have milder manifestations than males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=43
  21. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:fetal death usually occurs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=43
  22. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43
  23. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:four unrelated families have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=43
  24. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see bfic2, 605751)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=43
  25. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see cms1a2, 254210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cms1a2, 254210) | rel=r_associated | relid=0 | w=43
  26. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:genetic heterogeneity of axonal cmt (see cmt2a 118210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=43
  27. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:hand involvement improves with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=43
  28. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:increased male-to-female ratio (3-4 to 1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=43
  29. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:intelligence is normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=43
  30. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:may be same entity as elejalde syndrome (256710)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=43
  31. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=43
  32. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:most patients die of hepatic failure by 9 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=43
  33. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:motor symptoms develop later (about 5 years into illness)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=43
  34. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:mucocutaneous immunodeficiency syndrome may be prominent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=43
  35. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:neurologic signs may not be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=43
  36. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:often associated with klippel-feil anomaly (118100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=43
  37. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:onset before age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=43
  38. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:onset in infancy (first hours to weeks of life)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=43
  39. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:onset of clinical features around puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=43
  40. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:onset of joint pain in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=43
  41. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:onset usually in second or third decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=43
  42. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:patients may have recurrent infections due to immunosuppressive therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=43
  43. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:persistent bleeding after trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=43
  44. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=43
  45. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:prevalence of 1 in 3,900 in south africa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=43
  46. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:progression of phenotype with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=43
  47. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:progressive disease with onset in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=43
  48. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:pyogenic arthritis, pyoderma gangrenosum and acne
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=43
  49. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:range of onset 11 to 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=43
  50. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:rapidly progressive course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=43
  51. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:risk of affected offspring in maternal translocation carrier - 4-10%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=43
  52. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:see also autosomal dominant form (176860)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=43
  53. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=43
  54. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:sex ratio - 2.3 males-to-1 female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=43
  55. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:some patients never achieve walking or running
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=43
  56. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:some patients report cyclical changes in severity of symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=43
  57. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:survivors develop dysautonomia-like symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=43
  58. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:two unrelated families have been reported (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=43
  59. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:two unrelated patients have been reported (as of august 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=43
  60. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 43 / 1 -> en:variable age of onset (childhood to young adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=43
  61. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:age at onset can range from infancy to childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=42
  62. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:allelic disorder to rippling muscle disease (rmd, 606072)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=42
  63. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:approximately 25% have a severe course and die of respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=42
  64. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals | rel=r_associated | relid=0 | w=42
  65. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:associated with malignant hyperthermia (mhs, 145600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=42
  66. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:autosomal recessive inheritance (245600) has also been suggested
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=42
  67. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:both homozygous and heterozygous mutations in lrsam1 have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=42
  68. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:cataracts may be subclinical in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=42
  69. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:congenital - over 2,000 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=42
  70. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=42
  71. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:episodes last about 1.5 hours
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=42
  72. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:frequency 1/100,000 - 1/130,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=42
  73. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:genetic heterogeneity, see (203300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=42
  74. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:good response to phosphate treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=42
  75. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:green jaundice occurs only in the context of liver failure or obstructive cholestasis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=42
  76. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=42
  77. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | rel=r_associated | relid=0 | w=42
  78. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:mean age of onset in third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=42
  79. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:more common in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in females | rel=r_associated | relid=0 | w=42
  80. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:occurs most often among black africans
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=42
  81. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:one family with 2 sisters have been reported (as of march 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=42
  82. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:one indian family has been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=42
  83. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:one patient has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=42
  84. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset 50 to 65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=42
  85. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of dementia in the thirties or forties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=42
  86. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of diabetes in neonatal period/ early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=42
  87. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of disease around 10 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=42
  88. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of hearing loss prior to or during adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=42
  89. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of hearing loss ranges from childhood to young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=42
  90. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:onset of symptoms after age 5
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=42
  91. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:other tumors may also occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=42
  92. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:polg mutations account for approximately 45% of all peo cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=42
  93. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:presents at 2 to 3 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=42
  94. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:prevalent in ashkenazi jews
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=42
  95. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:respiratory distress may be precipitated by viral respiratory infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=42
  96. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:risk of sudden death due to cardiac arrhythmias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=42
  97. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:see also pseudohypoparathyroidism type ia (103580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=42
  98. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:skin erythroderma may resolve early, leaving atrophic lesions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=42
  99. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=42
  100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:some patients may show mild decrease in head circumference over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=42
  101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa | rel=r_associated | relid=0 | w=42
  102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=42
  103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:survival to 20s-60s in iib
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=42
  104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:the frequency is estimated at 1/20,000 to 1/50,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=42
  105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:ush3 cases account for 40% of all usher patients in finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=42
  106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 42 / 0.977 -> en:variable age at onset, ranging from childhood to adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=42
  107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:accounts for 30-50% of lymphomas in children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=41
  108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:adult onset has been rarely reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=41
  109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:affected males who survive are secondary to new mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=41
  110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | rel=r_associated | relid=0 | w=41
  111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:based on report of 1 family (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=41
  112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:cardiac manifestations are often fatal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=41
  113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:childhood onset has been reported in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=41
  114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:coronary artery disease or myocardial infarction in fifth or sixth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=41
  115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:death may occur in childhood due to respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=41
  116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:death usually due to renal failure by average age 3
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=41
  117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=41
  118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:earlier onset is associated with more rapid progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=41
  119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:female carriers may have mild hearing impairment and/or mild signs of choroideremia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=41
  120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:four patients from 2 unrelated families have been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=41
  121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=41
  122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see enfl1, 600513)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=41
  123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=41
  124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:hearing loss is variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=41
  125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | rel=r_associated | relid=0 | w=41
  126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:improvement of abnormal muscle biopsy and cox deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=41
  127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:incidence of 1 in 120,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=41
  128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:increased frequency in finland (incidence 1:60,000 finnish newborns)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=41
  129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:infants may have acute life-threatening crises
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=41
  130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:mean age at onset 33 years (range 20-60)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=41
  131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:mild manifestations in carrier females (cleft lip, cleft tongue)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=41
  132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:most children become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=41
  133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:neurologic features occur in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=41
  134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:one child has been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one child has been reported (as of october 2011) | rel=r_associated | relid=0 | w=41
  135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:one family has been reported (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=41
  136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset between 3 and 11 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=41
  137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset early childhood | rel=r_associated | relid=0 | w=41
  138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset in childhood (range 2 to 16 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=41
  139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset in childhood or adolescence in most patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=41
  140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset of hearing loss in first or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=41
  141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset of parkinsonism in early twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=41
  142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:onset of symptoms within the first 2 decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=41
  143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:overall course less severe compared to patients with cfh (134370) mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=41
  144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:patients become wheelchair-bound as adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=41
  145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:performing laboratory medical director:id:pt:facility:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=41
  146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:possible x-linked inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=41
  147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:prevalence of 1 in 150,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=41
  148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:progresses through puberty, then stabilizes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=41
  149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=41
  150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=41
  151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:seizures are sensitive to hyperventilation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=41
  152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=41
  153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=41
  154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=41
  155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe phenotype | rel=r_associated | relid=0 | w=41
  156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:smaller repeat lengths in younger generations (reverse anticipation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=41
  157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:some patients may present with adult-onset small fiber neuropathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=41
  158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:three patients (2 related) reported (last curated march 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=41
  159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:three unrelated boys have been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated boys have been reported (as of july 2011) | rel=r_associated | relid=0 | w=41
  160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:three unrelated caucasian patients have been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=41
  161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:two main phenotypes, metabolic and neurologic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=41
  162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:two sibs have been reported (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=41
  163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:variable age of onset (first to third decades)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=41
  164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 41 / 0.953 -> en:variable age of onset (range first to third decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=41
  165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:age of onset 2-8 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=40
  166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:age of onset earlier in familial cases than in sporadic cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset earlier in familial cases than in sporadic cases | rel=r_associated | relid=0 | w=40
  167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=40
  168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=40
  169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:allelic to robinow syndrome, autosomal recessive (268310)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=40
  170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8).
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). | rel=r_associated | relid=0 | w=40
  171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:autosomal dominant inheritance has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=40
  172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:based on 2 reported patients (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=40
  173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:based on four patients in a four generation family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=40
  174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:bullae are located randomly in familial cases and apical in sporadic cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=40
  175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:c10orf2 mutations account for approximately 35% of all peo cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=40
  176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:carrier frequency 1:200,000 in france
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=40
  177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:death by age 5 (infantile form)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=40
  178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see 213300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=40
  179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=40
  180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see ofc1, 119530)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=40
  181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=40
  182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:highly variable dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=40
  183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:incidence of 1 in 6,000 males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=40
  184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:increased risk of bilateral breast cancer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=40
  185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:lower limbs more severely affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=40
  186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=40
  187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:mean age at onset 12.5 years (range 2 to 15 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=40
  188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:mean age at onset 46.5 years (range 19-64)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=40
  189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:no male-to-male transmission
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=40
  190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:often reared as females until puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=40
  191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:one family has been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=40
  192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:one family has been reported (last curated october 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=40
  193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:one likely consanguineous turkish family has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=40
  194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:onset in childhood or as young adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=40
  195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=40
  196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:painful cramping following ischemic exercise test
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=40
  197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | rel=r_associated | relid=0 | w=40
  198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:protracted disease course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:protracted disease course | rel=r_associated | relid=0 | w=40
  199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=40
  200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:see also a childhood-onset form (114100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=40
  201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=40
  202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=40
  203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=40
  204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:sex ratio - 2 females to 1 male
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=40
  205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:some patients have an attenuated phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=40
  206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | rel=r_associated | relid=0 | w=40
  207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:two peaks of onset, childhood and adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=40
  208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:variable frequency and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=40
  209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:women are more often affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:women are more often affected | rel=r_associated | relid=0 | w=40
  210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 40 / 0.93 -> en:worsening of hand weakness with cold (in some)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=40
  211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:all affected individuals have been stillborn or died in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=39
  212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=39
  213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=39
  214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:allelic to naxos disease (601214)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=39
  215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:average age at onset 31 years (range 7 to 54)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=39
  216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:begins in feet and legs (peroneal distribution)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=39
  217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | rel=r_associated | relid=0 | w=39
  218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=39
  219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=39
  220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:death often before age 2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=39
  221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:death usually in sixth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=39
  222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=39
  223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:five patients have been reported (as of 8/2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=39
  224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:generally mild phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=39
  225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=39
  226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity (see cmtdia 606483)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=39
  227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity (sli2 606712, sli3 607134)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=39
  228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=39
  229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:highly variable age at onset (range 9 to 69 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=39
  230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | rel=r_associated | relid=0 | w=39
  231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:inheritance pattern is unclear
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=39
  232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:majority of wilms tumors are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=39
  233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:males more affected than females (2 to 2.5:1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=39
  234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | rel=r_associated | relid=0 | w=39
  235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:mildly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mildly progressive | rel=r_associated | relid=0 | w=39
  236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | rel=r_associated | relid=0 | w=39
  237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:neurologic involvement may occur in the absence of visceral involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=39
  238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:no abdominal symptoms or neurologic symptoms in harderoporphyria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=39
  239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:normal at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal at birth | rel=r_associated | relid=0 | w=39
  240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:one consanguineous family has been reported (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=39
  241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:one family and an unrelated patient have been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=39
  242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:one family has been reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:onset 10-20 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=39
  244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:onset after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset after puberty | rel=r_associated | relid=0 | w=39
  245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:onset by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=39
  246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:onset in childhood (later than in antenatal bartter syndrome 241200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=39
  247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:phenotypic variability within families and among patients carrying the same mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=39
  248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:response to zinc supplementation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=39
  249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=39
  250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:see also dominant deb (131750), an allelic disorder with a similar phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=39
  251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:see also later childhood-onset form (300718)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=39
  252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=39
  253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=39
  254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:slowly or non-progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=39
  255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:some patients have additional neurologic involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=39
  256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=39
  257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=39
  258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:stillborn or death in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=39
  259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:striking intrafamilial variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=39
  260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:subtype 3a comprises myoclonus and dementia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=39
  261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:susceptibility to infections starts in the first week of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=39
  262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:three unrelated girls have been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=39
  263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:usual onset under age 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=39
  264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 39 / 0.907 -> en:zinc deficiency in breastfed offspring resolves after weaning
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=39
  265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:age at onset in females ranges from childhood to the fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=38
  266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=38
  267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:associated with fragile x syndrome (300624)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=38
  268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:based on report of 1 3-generation family (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=38
  269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:de novo deletions in 8% of patients (preferentially paternally derived)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=38
  270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:death may occur in early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=38
  271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:death often in the teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=38
  272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:estimated frequence 1/3000 to 1/5000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=38
  273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:family history of sudden death, as early as fourth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=38
  274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:frequent falls
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequent falls | rel=r_associated | relid=0 | w=38
  275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:hearing impairment may improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=38
  276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=38
  277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:mean age of death is 34 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=38
  278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:mean survival 5 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=38
  279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:most cases do not have mutations in the mapt gene, but map to chromosome 17q
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=38
  280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:muscle symptoms precede cardiac symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=38
  281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:nails, palms, and soles are spared in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=38
  282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:one amish family has been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=38
  283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:one compound heterozygous patient reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=38
  284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:one family has been reported (as of april 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=38
  285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:onset in childhood or teenage years (7 to 16 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=38
  286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:onset in first days of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=38
  287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:onset in first hours to days of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=38
  288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:onset in second to fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=38
  289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:onset of proteinuria in the second to fourth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=38
  290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:paternal age effect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:paternal age effect | rel=r_associated | relid=0 | w=38
  291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:patient with truncating mutations are more likely to develop neurologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=38
  292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=38
  293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:patients present at birth with respiratory distress or poor head control
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=38
  294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:see also hmn2b (608634)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=38
  295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=38
  296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=38
  297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=38
  298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=38
  299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:short umbilical cord
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=38
  300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:skin changes are progressive in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=38
  301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:some patients do not have thin corpus callosum
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=38
  302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:some patients respond to acetazolamide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=38
  303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:spasticity is slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=38
  304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:two subtypes - seminoma and nonseminoma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=38
  305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:upper limb involvement occur later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=38
  306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:usually a manifestation of the carney complex (cnc1, 1609890)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=38
  307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:variable age at onset (range late infancy to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=38
  308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:variable severity, correlates with age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=38
  309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 38 / 0.884 -> en:visceral manifestations are less apparent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=38
  310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:adrenal insufficiency usually develops later (first decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=37
  311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:adult onset may also occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=37
  312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:adult-onset is referred to as small fiber neuropathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=37
  313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=37
  314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:allelic to ellis-van creveld syndrome (225500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=37
  315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=37
  316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:carrier frequency in finland is 1 in 230
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=37
  317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | rel=r_associated | relid=0 | w=37
  318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | rel=r_associated | relid=0 | w=37
  319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:death in infancy secondary to respiratory insufficiency/pneumonia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=37
  320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | rel=r_associated | relid=0 | w=37
  321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=37
  322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:distinct disorder from parkinson disease (168600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=37
  323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:familial form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial form | rel=r_associated | relid=0 | w=37
  324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:female carriers may be affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=37
  325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:food intolerance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:food intolerance | rel=r_associated | relid=0 | w=37
  326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:four patients reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=37
  327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see 161800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=37
  328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see, e.g., atfb1, 608583)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=37
  329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:hyperlipidemia may be partially responsive to fat-restricted diet
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=37
  330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:incidence of 1 in 10,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=37
  331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:incidence of 1 in 25,000 to 1 in 50,000 newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=37
  332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:increased frequency in individuals originating from western scotland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=37
  333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:majority of cases are due to de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=37
  334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | rel=r_associated | relid=0 | w=37
  335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:most case are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=37
  336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:most common mutation is leu276ile (606596.0004)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=37
  337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:most remit by 6 weeks (1-6 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=37
  338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:one patient has been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=37
  339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset in late childhood/adolescence (approximately 15 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=37
  340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset of bleeding symptoms in childhood or young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=37
  341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset of cataracts in late adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=37
  342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset of sleep terrors between age 4 and 12 years old
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=37
  343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset often begins in childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=37
  344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:onset usually in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=37
  345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:patients with later onset do not have dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=37
  346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:phenotype may be exacerbated by maltreatment in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=37
  347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:progressive disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disease | rel=r_associated | relid=0 | w=37
  348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:psychomotor delay may already be apparent at onset of seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=37
  349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | rel=r_associated | relid=0 | w=37
  350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:seizures and cognitive involvement are variable findings
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=37
  351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=37
  352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:some features are variably expressed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=37
  353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:some patients show delayed development from birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=37
  354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=37
  355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:two related patients have been reported (as of november 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=37
  356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:two unrelated families have been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=37
  357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:two unrelated patients have been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=37
  358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:variable age of onset (childhood to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=37
  359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:variable age of onset, ranging from 11 to 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=37
  360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:variable phenotype ranging from woolly to sparse hair, even within a single family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=37
  361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=37
  362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 37 / 0.86 -> en:worsened by immunosuppressive therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worsened by immunosuppressive therapy | rel=r_associated | relid=0 | w=37
  363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:(1) infantile nephropathic (219800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=36
  364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:(4) thiamine-responsive form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=36
  365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:(5) dihydrolipoyl dehydrogenase (e3)-deficient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=36
  366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:1 patient reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=36
  367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:2-3% due to imprinting defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=36
  368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:2% due to paternal uniparental disomy of 15q11.2-q13
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=36
  369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:50% of cases represent new mutations associated with advanced paternal age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=36
  370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:a minority of patients have onset after age 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=36
  371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:a subset of patients may have congenital abnormalities of the ocular anterior segment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=36
  372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=36
  373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:about 50% of patients have intellectual disability and/or hydrocephalus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=36
  374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=36
  375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:acanthosis nigricans fades during adolescence and reappears in pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=36
  376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:accounts for 1-2% of lymphomas in adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=36
  377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:additional developmental abnormalities may be seen in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=36
  378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:adolescent or adult onset associated with neuropsychiatric symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=36
  379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:adult onset (mean 30 years, range 10-65 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=36
  380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:adult onset (mean 30 years, range 5-60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=36
  381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:adult onset has been reported (age 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=36
  382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:adults may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=36
  383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:affected infants appear normal at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=36
  384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:affected males are somatic mosaic for mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=36
  385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:affected males have serotonin-related disorders such as migraine headaches and diabetes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=36
  386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:age at onset most often in childhood (first decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=36
  387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:age of onset 1 to 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=36
  388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:age on onset - adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=36
  389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:all cases occur in a jewish religious isolate originally from cochin, india
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=36
  390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:all cases occur in old order amish, lancaster county, pennsylvania
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=36
  391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:all cases sporadic (18 males, 7 females)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=36
  392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:all reported cases have occurred de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=36
  393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder is brugada syndrome (601144)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=36
  394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to adult polyglucosan body disease (263570)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=36
  395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=36
  396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to cln8 (600143)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=36
  397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to cmt4a (214400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=36
  398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=36
  399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=36
  400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to stickler syndrome 3 (184840)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=36
  401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorder to type iv glycogen storage disease (232500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=36
  402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) | rel=r_associated | relid=0 | w=36
  403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=36
  404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to cartilage-hair hypoplasia (250250)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=36
  405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | rel=r_associated | relid=0 | w=36
  406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=36
  407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=36
  408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to hand osteoarthritis (607850)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=36
  409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=36
  410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=36
  411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to kenny-caffey syndrome type 1 (244460)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=36
  412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to myosin storage myopathy (608358)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=36
  413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=36
  414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | rel=r_associated | relid=0 | w=36
  415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:alpha-l-iduronidase activity is <1% for all forms of mps1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=36
  416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=36
  417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:approximately 60% of brrs patients have pten mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=36
  418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=36
  419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:associated with increased frequency of autoimmune diseases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=36
  420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:association of cardiac events with exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=36
  421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | rel=r_associated | relid=0 | w=36
  422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=36
  423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:autosomal recessive (177000.0006)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive (177000.0006) | rel=r_associated | relid=0 | w=36
  424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:autosomal recessive form (240220)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=36
  425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:autosomal recessive inheritance in one family (see 603342.0010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=36
  426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on 1 report of monozygotic twins (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=36
  427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | rel=r_associated | relid=0 | w=36
  428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on 2 reports of 3 patients (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=36
  429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on 2 siblings in 1 family (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=36
  430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on 2 unrelated chinese families (last curated july 2014).
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=36
  431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on report of 1 saudi arabian family (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=36
  432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=36
  433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:based on the report of one lebanese family (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=36
  434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=36
  435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:benign trait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:benign trait | rel=r_associated | relid=0 | w=36
  436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:between 2 and 7% of children will develop afebrile seizure disorders later in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=36
  437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:bilateral involvement in 10% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=36
  438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:blistering may worsen during the summer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=36
  439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:breech position
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:breech position | rel=r_associated | relid=0 | w=36
  440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:breech presentation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:breech presentation | rel=r_associated | relid=0 | w=36
  441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:cardiac features are observed in ~3% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=36
  442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=36
  443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:cause of death usually due to respiratory failure before adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=36
  444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:caused by a defect in bile acid transport
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=36
  445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:caused by heterozygous germline mutation and second-hit somatic mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=36
  446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:caused by inborn error in bile acid synthesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=36
  447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:caused by inheritance of the mutation on the maternal allele (imprinting)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=36
  448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:characteristic facial features become more apparent with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=36
  449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | rel=r_associated | relid=0 | w=36
  450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:childhood onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset | rel=r_associated | relid=0 | w=36
  451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:childhood onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=36
  452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=36
  453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:chronic course with exacerbations and remissions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=36
  454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:clinical heterogeneity of multiminicore disease (see 255320 and 607552)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) | rel=r_associated | relid=0 | w=36
  455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:clinical improvement after 2 to 3 weeks of supportive care
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=36
  456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:cold-induced sweating develops late in the first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=36
  457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:complementation group b (represented by single atypical patient)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=36
  458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:considered a normal variant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=36
  459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=36
  460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:considered to be a manifestation of the caudal regression syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=36
  461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death about 20 years after symptom onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=36
  462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death at birth or within first 2 years of life (severe form)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=36
  463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death by age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=36
  464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood | rel=r_associated | relid=0 | w=36
  465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in childhood may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=36
  466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in early childhood has been reported in some presumed homozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=36
  467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in teens secondary to cardiac failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=36
  468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in the fifth or sixth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=36
  469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in third or fourth decades, usually due to respiratory infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=36
  470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death in utero or as neonate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=36
  471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death often in early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=36
  472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death secondary to renal failure, cardiac or cerebrovascular disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=36
  473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death secondary to respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=36
  474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death usually in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=36
  475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death usually occurs in first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=36
  476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death usually occurs in the first weeks to months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=36
  477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death within first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within first decade | rel=r_associated | relid=0 | w=36
  478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:death within first months or years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=36
  479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:decreased penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=36
  480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:delayed psychomotor development apparent in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=36
  481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:delta-f508 present in 70% of alleles
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=36
  482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:deposits may recur in graft after corneal transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=36
  483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:described in families from galicia, spain
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=36
  484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:detected in 1/50,000 in neonatal screening programs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=36
  485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:diabetes status:prid:pt:^patient:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=36
  486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:diagnosis made if 3/7 defects are present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=36
  487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:die at birth or shortly after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=36
  488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:disease exacerbation during summer due to heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=36
  489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:diurnal fluctuation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=36
  490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:dysmorphic features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=36
  491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:dystonia is usually focal or segmental
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=36
  492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:early onset, between 35-60 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=36
  493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:end-stage renal failure may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=36
  494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:endocrine defects evolve over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=36
  495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=36
  496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:episodes occur 30 minutes to 3 hours after exposure to cold
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=36
  497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:excessive postsurgical blood loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=36
  498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:existence as a distinct entity is not confirmed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=36
  499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:exon 7 of smn1 is absent in 95.6% of sma1 patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=36
  500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:facial dysmorphism is uncommon
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial dysmorphism is uncommon | rel=r_associated | relid=0 | w=36
  501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:familial (10%) and isolated cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=36
  502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:favorable response to bh4 therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=36
  503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:favorable response to corticosteroid treatment (1 family)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=36
  504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:favorable response to hydroxychloroquine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=36
  505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features are variable | rel=r_associated | relid=0 | w=36
  506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=36
  507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:feet are unaffected in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=36
  508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:female carriers may have asymptomatic proteinuria or hypercalciuria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=36
  509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:female carriers may show intermittent hematuria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=36
  510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:female mutation carriers have earlier age at onset compared to male mutation carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=36
  511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:female to male ratio 8-13:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=36
  512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:females carriers have more variable age at onset and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=36
  513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:females may be unaffected or mildly affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=36
  514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:fishy body odor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fishy body odor | rel=r_associated | relid=0 | w=36
  515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:five reported patients, all boys (as of july 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=36
  516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:five unrelated patients have been reported (as of december 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=36
  517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:for similar autosomal recessive form, see cln4 (204300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=36
  518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=36
  519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:four unrelated patients have been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=36
  520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:fractures often heal without deformity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=36
  521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=36
  522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see 157640)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=36
  523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see 259700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=36
  524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see 604559)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=36
  525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=36
  526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see cmt1b 118200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=36
  527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=36
  528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=36
  529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=36
  530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see rls2, 608831)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=36
  531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=36
  532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity, see evr1 (133780)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=36
  533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity, see ppnad1 (610489)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=36
  534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:gestational age:time:pt:^fetus:qn:amniocentesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=36
  535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:group b patients die by 3 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=36
  536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hair phenotype present at birth and involves entire scalp region
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=36
  537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:has been described in patients of caucasus jewish origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=36
  538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hearing loss is usually severe by age 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=36
  539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hepatic failure develops in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=36
  540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=36
  541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=36
  542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=36
  543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:heterozygous mutation carriers may show mild symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=36
  544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:heterozygous mutations reported, see 606609.0006 and 606609.0007
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=36
  545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:high frequency among french-canadians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=36
  546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | rel=r_associated | relid=0 | w=36
  547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:high occurrence of de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=36
  548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:high prevalence in charlevoix-saguenay region of northeastern quebec
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=36
  549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:high risk of recurrence after surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=36
  550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:highly penetrant, but low morbidity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=36
  551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:highly variable phenotype and age of onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=36
  552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:highly variable phenotype with regard to pigmentation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=36
  553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:highly variable phenotype, ranging from asymptomatic to severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=36
  554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=36
  555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hip replacement in early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=36
  556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=36
  557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:homozygotes have more severe disease with earlier onset of thrombosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=36
  558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:homozygous patients have earlier-onset and more severe disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=36
  559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=36
  560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=36
  561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hypersensitivity to ionizing radiation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=36
  562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:hypogonadism reported in a large swedish kindred
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=36
  563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:in general, men have more severe disease than women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=36
  564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence 2-5% of north american children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=36
  565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence in finland is 1 in 76,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=36
  566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence in japan is 1 in 57,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=36
  567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence of 1 in 150,000 live births in the general population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=36
  568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence of 1 in 300,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=36
  569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence of all forms of cjd is 0.5 to 1.5 per million per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=36
  570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence ranges from 1 in 8,500 to 1 in 12,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=36
  571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=36
  572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:incomplete penetrance, some individuals have only emg changes without other clinical signs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=36
  573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased aneuploidy in offspring
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=36
  574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased bleeding after surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=36
  575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased frequency in ashkenazi jewish population and in finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=36
  576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=36
  577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased prevalence in individuals of turkish descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=36
  578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased prevalence in northern finland (7.3/100,000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=36
  579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:increased sensitivity to valproic acid toxicity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=36
  580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:infantile onset with hepatic involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=36
  581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord | rel=r_associated | relid=0 | w=36
  582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | rel=r_associated | relid=0 | w=36
  583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:intrafamilial variability in degree of nail involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=36
  584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:intrafamilial variability in nail changes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=36
  585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=36
  586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:isolated cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:isolated cases | rel=r_associated | relid=0 | w=36
  587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:jbts shows autosomal dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=36
  588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:juvenile myoclonic epilepsy (jme, 606904)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=36
  589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:late onset combined immunodeficiency with allelic variant 102700.0020
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=36
  590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:lifetime risk of breast cancer in mutation carriers is 80 to 90%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=36
  591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:liver enzymes decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=36
  592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:liver size returns to normal after 3 months to 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=36
  593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:majority of cases have been sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=36
  594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:majority of children die before age 2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=36
  595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:majority of individuals are healthy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=36
  596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:majority of wws patients die within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=36
  597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:male predominance of 3:1 to 5:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=36
  598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:male to female ratio 7:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=36
  599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:male to female ratio is greater than 3:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=36
  600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:males carry mutations in the somatic mosaic state
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=36
  601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:many cases result from de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=36
  602. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:marked heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=36
  603. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:maternal oligohydramnios
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=36
  604. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:may have seasonal variance in severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=36
  605. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:may present in infancy with episodes of severe metabolic decompensation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=36
  606. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age at onset 23.9 years (range 10 to 55 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=36
  607. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age at onset 30.7 years (range 6 to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=36
  608. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age at onset of bone disease is 40 years (range 23-65)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=36
  609. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age of diagnosis is 40 years (range 11 to 79 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=36
  610. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age of onset 30 years (range first to seventh decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=36
  611. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=36
  612. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=36
  613. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:median age of onset of pigmentation - 8 years (range 1-15 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=36
  614. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:median life expectancy, 13.4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=36
  615. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:melnick-needles syndrome (mns, 309350) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=36
  616. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mild facial dysmorphism is associated with duplication of the flna gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=36
  617. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mild phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild phenotype | rel=r_associated | relid=0 | w=36
  618. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:more common in women (90%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=36
  619. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mortality, premature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mortality, premature | rel=r_associated | relid=0 | w=36
  620. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=36
  621. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most cases occur de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=36
  622. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most frequently affected joints - hands (98%) and feet (88%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=36
  623. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most individuals are wheelchair-bound or bedridden by adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=36
  624. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients are stillborn or die in immediate neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=36
  625. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients become wheelchair-bound in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=36
  626. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=36
  627. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients die from heart failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=36
  628. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients have a family history of fragile x syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=36
  629. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients have no bleeding abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=36
  630. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients present in infancy with anemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=36
  631. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients remain ambulatory in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=36
  632. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:most patients require liver transplant in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=36
  633. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mother had rubella infection during pregnancy with daughter
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=36
  634. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mother who carries the mutation is clinically unaffected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=36
  635. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:motor fluctuations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=36
  636. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:muscle weakness increases with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=36
  637. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:mutation in the hcrt gene has been identified in 1 patient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=36
  638. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:neonatal onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal onset | rel=r_associated | relid=0 | w=36
  639. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:neonatal or infant death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=36
  640. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:neonatal sepsis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=36
  641. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:neurologic symptoms are progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=36
  642. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=36
  643. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=36
  644. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:no clinical manifestations were noted (incidental laboratory finding)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=36
  645. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:no predisposition to skin tumor development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=36
  646. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:no response or worsening with acetylcholinesterase inhibitors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=36
  647. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=36
  648. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:normal neonatal blood phenylalanine has been reported in rare patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=36
  649. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:not responsive to steroid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=36
  650. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:obligate female carriers may show mild signs of muscle weakness, especially of the face
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=36
  651. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=36
  652. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:occurs in full-term newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=36
  653. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:occurs more frequently in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=36
  654. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:odor of 'sweaty feet'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=36
  655. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=36
  656. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:often diagnosed between ages 3-4 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=36
  657. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:older individuals had moderate to severe hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=36
  658. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:older patients become wheelchair-dependent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=36
  659. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one canadian mennonite family has been reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=36
  660. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one consanguineous family has been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=36
  661. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one consanguineous pakistani family has been described (last curated march 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=36
  662. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one consanguineous pakistani family has been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=36
  663. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family from hong kong has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=36
  664. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family from punjab, india has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=36
  665. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=36
  666. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=36
  667. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=36
  668. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=36
  669. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=36
  670. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family has been reported with limited clinical information (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=36
  671. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family of mali origin has been reported (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=36
  672. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family of puerto rican descent has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=36
  673. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=36
  674. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=36
  675. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=36
  676. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient who died at 5.5 months of age has been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient who died at 5.5 months of age has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=36
  677. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient with a homozygous mutation has been reported (as of 14 june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=36
  678. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient with normal psychomotor development has been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=36
  679. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:one patient with severe congenital onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=36
  680. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:only 46,xy individuals are affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=36
  681. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset 6 to 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=36
  682. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset 7 to 15 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=36
  683. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset age 20 to 51 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=36
  684. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset around adolescence in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=36
  685. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset at 4 to 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=36
  686. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset at early age, associated with sudden death in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=36
  687. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset at or soon after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=36
  688. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset before 10 years of age in all patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=36
  689. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset before 50 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=36
  690. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset between 2-5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=36
  691. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset between 34 and 51 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=36
  692. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset between ages 12 and 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=36
  693. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset birth to early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=36
  694. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset by 1 year of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=36
  695. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=36
  696. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=36
  697. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in childhood or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=36
  698. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in childhood, adolescence, and adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=36
  699. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in early childhood (2-4 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=36
  700. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in early childhood (infancy to 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=36
  701. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in first decade (average 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=36
  702. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=36
  703. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in infancy or early childhood (before age 3 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=36
  704. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in infancy up to 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=36
  705. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in late childhood or adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=36
  706. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in middle age (44 to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=36
  707. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in neonatal period or infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=36
  708. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in the first decade (range birth to 8 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=36
  709. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in the first months of life (3 to 7 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=36
  710. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in the fourth to sixth decades (mean 40 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=36
  711. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in the second or third decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=36
  712. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset in young adulthood or adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=36
  713. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset is usually in childhood or adolescence (2 to 18 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=36
  714. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of acute encephalopathic attacks in childhood (3 to 7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=36
  715. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of contractures in utero
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=36
  716. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of crises in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=36
  717. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of hearing loss in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=36
  718. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of lipodystrophy later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=36
  719. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of lymphedema before puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=36
  720. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of muscle weakness around age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=36
  721. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=36
  722. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of neurologic symptoms often by 30 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=36
  723. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of symptoms at 2-4 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=36
  724. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of symptoms in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=36
  725. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset of symptoms usually in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=36
  726. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually after viral-like infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=36
  727. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually associated with febrile illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=36
  728. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=36
  729. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in childhood (1 to 9 years of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=36
  730. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in childhood (range infancy to late childhood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=36
  731. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=36
  732. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=36
  733. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in the first decade (range 0.8 to 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=36
  734. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset usually in third or fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=36
  735. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:onset within first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=36
  736. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | rel=r_associated | relid=0 | w=36
  737. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:overall prevalence is between 0.5 and 14 per 100,000 people per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=36
  738. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pathogenic alleles contain 52 to 86 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=36
  739. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pathogenic alleles contain 75-11,000 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=36
  740. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | rel=r_associated | relid=0 | w=36
  741. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients from 4 unrelated families have been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=36
  742. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients from old order amish community and turkey have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=36
  743. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients gradually develop tolerance to carbohydrates over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=36
  744. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients may be asymptomatic, but are at risk for metabolic decompensation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=36
  745. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients may become ventilator-dependent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=36
  746. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients may require implantable cardioverter defibrillators
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=36
  747. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=36
  748. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients with medication-resistant hypertension require bilateral adrenalectomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=36
  749. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=36
  750. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | rel=r_associated | relid=0 | w=36
  751. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | rel=r_associated | relid=0 | w=36
  752. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:peak age of onset in second decade (range childhood to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=36
  753. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:perinatal mortality
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:perinatal mortality | rel=r_associated | relid=0 | w=36
  754. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) | rel=r_associated | relid=0 | w=36
  755. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotype is worsened by cold temperature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=36
  756. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=36
  757. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=36
  758. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotypic similarities to angelman syndrome (105830)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=36
  759. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:phenotypic variability, intrafamilial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=36
  760. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=36
  761. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:poland syndrome can be associated with moebius syndrome (157900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=36
  762. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:poor outcome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor outcome | rel=r_associated | relid=0 | w=36
  763. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:poor response to levodopa treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=36
  764. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:possible genetic heterogeneity (linkage to xp22 in some families)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=36
  765. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:possibly allelic to cohen syndrome (216550)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=36
  766. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:preferably treated with iodine supplementation rather than thyroid hormone replacement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=36
  767. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:presentation after 18 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=36
  768. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:presentation after 6 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=36
  769. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=36
  770. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:presents as early-onset strokes in 43% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=36
  771. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence 1-2% in northern european populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=36
  772. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence approximately 1 in 4,000 males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=36
  773. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence in caucasians is 1 in 1,000,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=36
  774. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence in sardinia is 1 in 14,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=36
  775. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence in taiwan is 1 in 132,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=36
  776. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence is estimated to be 1 in 1,100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=36
  777. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence of 1 in 10,000 african-americans
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=36
  778. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence of 1 in 50,000-70,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=36
  779. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalence rates average 10-20% of the general population over age 60
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=36
  780. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:prevalent in newfoundland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=36
  781. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:provoked by crying or emotional upset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=36
  782. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pseudomembrane formation triggered by injury, infection, irritation, surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=36
  783. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:pyridoxine responsive individuals often have milder manifestations than those not responsive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=36
  784. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:rare disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare disorder | rel=r_associated | relid=0 | w=36
  785. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:rare patients with homozygous null mutations have most severe disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=36
  786. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=36
  787. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:relatively slow progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=36
  788. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:renal anomalies are not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=36
  789. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=36
  790. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:response to acetazolamide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=36
  791. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:responsive to oral mannose therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=36
  792. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:responsive to thiazide diuretics
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=36
  793. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:risk of affected offspring in paternal translocation carrier - 0-7%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=36
  794. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:risk of sudden death in childhood due to cardiac arrest
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=36
  795. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:risk of sudden death with exertion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=36
  796. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seasonal variation in severity of skin symptoms reported by some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=36
  797. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:secondary tumors develop within the skin lesions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=36
  798. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=36
  799. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also autosomal recessive peob (258450)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=36
  800. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also ecyt2 (263400) and ecyt3 (609820)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=36
  801. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also facial hemihypertrophy (133900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=36
  802. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also familial developmental dysphasia (600117)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=36
  803. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also more severe phenotype peeling skin syndrome (270300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=36
  804. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=36
  805. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | rel=r_associated | relid=0 | w=36
  806. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:see the more common methemoglobinemia types i and ii (250800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=36
  807. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seen more frequently in infants of diabetic mothers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=36
  808. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizure onset at a mean of 14 months (range 6 to 36 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=36
  809. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures are refractory to medication
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=36
  810. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures are responsive to pyridoxine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=36
  811. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures may be triggered by infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=36
  812. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures precipitated by fatigue or alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=36
  813. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures remit in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=36
  814. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:seizures resolve by 4 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=36
  815. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:sensory loss is rapidly progressive and severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=36
  816. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  817. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  818. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  819. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  820. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  821. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  822. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  823. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  824. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  825. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=36
  826. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=36
  827. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:severity of phenotype is not related to residual enzyme activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=36
  828. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:short stepped shuffling gait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=36
  829. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:significant clinical overlap with sotos syndrome (117550)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=36
  830. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:similar clinical features to edsi (130000) but less severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar clinical features to edsi (130000) but less severe | rel=r_associated | relid=0 | w=36
  831. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:six patients have been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=36
  832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:six patients have been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=36
  833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:skin changes have onset in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=36
  834. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:skin lesion appear shortly after birth and tend to disappear in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=36
  835. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:slc25a4 mutations account for approximately 4% of all peo cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=36
  836. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:slow or nonprogressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=36
  837. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:slow progression without marked disability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=36
  838. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:small placenta
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:small placenta | rel=r_associated | relid=0 | w=36
  839. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some carrier females have episodes of significant hyperammonemia in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=36
  840. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some carrier females have mild features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=36
  841. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some features are variably present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features are variably present | rel=r_associated | relid=0 | w=36
  842. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some features may be progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=36
  843. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some females are affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some females are affected | rel=r_associated | relid=0 | w=36
  844. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients can be treated with large doses of vitamin d and calcium
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=36
  845. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients do not have dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=36
  846. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients have a crouzon-like appearance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=36
  847. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | rel=r_associated | relid=0 | w=36
  848. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may become bedridden 10 to 20 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=36
  849. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may die from cardiomyopathy in the first or second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=36
  850. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may have isolated myokymia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=36
  851. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may not achieve walking
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=36
  852. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may not present until adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=36
  853. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients may respond to thiamine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=36
  854. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients show infantile onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=36
  855. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:some patients show normal development until onset of disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=36
  856. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:spasticity occurs before parkinsonism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=36
  857. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:spontaneous resolution of seizures by 12 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=36
  858. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:spontaneous resolution usually after 12 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=36
  859. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:sporadic occurrence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=36
  860. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:spots occur in 95% of patients but can be absent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=36
  861. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:stable or slowly progressive course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=36
  862. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:stage iii, pseudostationary period (onset 2-10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=36
  863. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:static, nonprogressive disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=36
  864. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | rel=r_associated | relid=0 | w=36
  865. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms are often responsive to alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=36
  866. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms begin focally, later segmental or generalized
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=36
  867. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms induced by strenuous exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=36
  868. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=36
  869. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms precipitated by sudden movements
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=36
  870. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:symptoms resolve over weeks to months with usually no residual symptoms between attacks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=36
  871. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:systemic granulomatous disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=36
  872. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=36
  873. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | rel=r_associated | relid=0 | w=36
  874. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:thiamine supplementation may be beneficial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=36
  875. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:thorax anomaly ameliorates with age (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=36
  876. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=36
  877. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:three times more common in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three times more common in males | rel=r_associated | relid=0 | w=36
  878. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:three unrelated patients have been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=36
  879. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=36
  880. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=36
  881. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=36
  882. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | rel=r_associated | relid=0 | w=36
  883. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=36
  884. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two families have been reported (last curated january 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=36
  885. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two fetuses have been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=36
  886. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two main phenotypes, severe and mild
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=36
  887. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=36
  888. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two patients in one ashkenzai jewish family described (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=36
  889. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=36
  890. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=36
  891. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated families have been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=36
  892. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated families have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=36
  893. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) | rel=r_associated | relid=0 | w=36
  894. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated japanese families have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=36
  895. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated japanese patients have been reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=36
  896. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients have been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=36
  897. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients have been reported (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=36
  898. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients have been reported (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=36
  899. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | rel=r_associated | relid=0 | w=36
  900. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients with epileptic encephalopathy have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=36
  901. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=36
  902. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:type 2b is characterized by increased affinity for platelet glycoprotein 1b
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=36
  903. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:type 2cb is characterized by defective binding affinity for collagen types i and iii
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=36
  904. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=36
  905. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=36
  906. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:u.s. frequency higher in blacks than whites
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=36
  907. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:upper limb involvement usually occurs later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=36
  908. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:usual age of onset in the 20s and 30s
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=36
  909. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:usual onset before age 6 years and death by age 20
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=36
  910. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:usually occurs in children younger than 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=36
  911. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age at onset (childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=36
  912. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age at onset (childhood to age 50)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=36
  913. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age at onset (range first to third decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=36
  914. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age at onset (range from early childhood to mid-adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=36
  915. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age of onset (range early childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=36
  916. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age of onset of renal manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=36
  917. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable age of onset, from early childhood to seventh decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=36
  918. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable clinical features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable clinical features | rel=r_associated | relid=0 | w=36
  919. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | rel=r_associated | relid=0 | w=36
  920. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable expression and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=36
  921. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable expressivity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expressivity | rel=r_associated | relid=0 | w=36
  922. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable expressivity in families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=36
  923. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable expressivity, some patients may be clinically asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=36
  924. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable frequency and duration of episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=36
  925. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable penetrance and expressivity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=36
  926. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable phenotype depending on residual enzyme activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=36
  927. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable phenotypic expression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=36
  928. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variable response to acetazolamide and carbamazepine
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=36
  929. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:variant at may present with dystonia only
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=36
  930. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:visual symptoms present by late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=36
  931. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:warm weather and alcohol are alleviating factors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=36
  932. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:wide clinical variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=36
  933. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 36 / 0.837 -> en:worsening of symptoms during sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=36
  934. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:(1) classic severe (onset of symptoms 4 to 7 days of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=35
  935. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:1 in 17,000 in china
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=35
  936. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:14 patients in 8 recessive kindreds reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=35
  937. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=35
  938. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:80% cases new mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=35
  939. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:99+% of the mutations are fgfr3, g380r (134934.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=35
  940. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:a milder form has also been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=35
  941. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | rel=r_associated | relid=0 | w=35
  942. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:a wnt3 mutation has been identified in 1 affected family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=35
  943. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:abnormal morphogenesis of first and second branchial arches
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=35
  944. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:about a dozen patients have been reported (as of march 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
  945. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=35
  946. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:accounts for 70% of all usher syndrome patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=35
  947. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:acral form of skin peeling limited to hands and feet (609796)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=35
  948. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:acute encephalopathic episodes may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=35
  949. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:adult onset (45 to 76 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=35
  950. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:adult onset (forties)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (forties) | rel=r_associated | relid=0 | w=35
  951. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=35
  952. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:affected females are infertile
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=35
  953. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:affected males have normal pubertal development and are fertile
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=35
  954. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:affected males have onset of poor vision before the age of 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=35
  955. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:affected patients have various combinations of the main clinical features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=35
  956. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age at diagnosis 24 +/- 18 years for dominant disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=35
  957. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age of onset 17 to 68 years (mean 39)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=35
  958. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age of onset 20-65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=35
  959. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age of onset 36 to 55 years (mean 47)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=35
  960. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age of onset, 6-20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=35
  961. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age-dependent penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=35
  962. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:age:time:pt:^patient:qn:calculated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=35
  963. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:all cases have been stillborn or immediate neonatal death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=35
  964. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:all features are unilateral
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=35
  965. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=35
  966. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorder to nonaka myopathy (605820)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to nonaka myopathy (605820) | rel=r_associated | relid=0 | w=35
  967. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=35
  968. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=35
  969. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorder to spinal muscular atrophy type i (253300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=35
  970. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=35
  971. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to bardet-biedl syndrome 6 (209900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=35
  972. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to mevalonic aciduria (610377)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=35
  973. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to nephronophthisis 4 (606966)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=35
  974. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=35
  975. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=35
  976. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to several forms of autosomal recessive cmt (see 214400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=35
  977. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to sialuria, finnish type (604369)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=35
  978. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=35
  979. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=35
  980. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=35
  981. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:alopecia usually occurs around puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=35
  982. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=35
  983. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:ambulation usually not achieved
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=35
  984. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with fragile x syndrome (309550)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=35
  985. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with hemodialysis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=35
  986. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with idiopathic generalized epilepsy (ige, 600669)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=35
  987. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | rel=r_associated | relid=0 | w=35
  988. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with increased paternal age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=35
  989. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) | rel=r_associated | relid=0 | w=35
  990. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:associated with the tau (157140) h1 haplotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=35
  991. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:association between hla class ii alleles and presence of autoantibodies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=35
  992. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:association with autoimmune diseases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=35
  993. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:asymptomatic skin lesions begin on neck in third decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=35
  994. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:attacks triggered by catabolic stress, such as fever or illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=35
  995. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:autosomal dominant omodysplasia has also been described (164745)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=35
  996. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cases tend to have a more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=35
  997. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:autosomal recessive omodysplasia has also been described (258315)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=35
  998. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:average age at diagnosis 17.8 years (range 2-35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=35
  999. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:average onset of seizures 6 months (range 3-12)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=35
  1000. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=35
  1001. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) | rel=r_associated | relid=0 | w=35
  1002. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=35
  1003. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on report of 2 siblings and 1 patient (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=35
  1004. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on report of 2 sisters (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=35
  1005. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | rel=r_associated | relid=0 | w=35
  1006. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:begins as focal dystonia, later becomes segmental or generalized
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=35
  1007. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:bimodal age of onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=35
  1008. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:bleeding episodes occur early in life and may disappear with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=35
  1009. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:blood glucose monitor with integrated lancing/blood sample
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=35
  1010. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:both autosomal dominant and autosomal recessive inheritance have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=35
  1011. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:boys are more often affected than girls (3:2)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=35
  1012. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cardiomyopathy may develop later in the disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=35
  1013. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:carrier females are normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=35
  1014. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cases reported in the old order amish and one japanese family (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=35
  1015. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=35
  1016. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cells of origin are part of the diffuse neuroendocrine system (dnes)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=35
  1017. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cerebellar ataxia shows onset in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=35
  1018. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cheerful disposition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=35
  1019. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=35
  1020. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:childhood or adolescent onset (usually less than 25 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=35
  1021. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=35
  1022. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=35
  1023. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:clinical and biochemical abnormalities improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=35
  1024. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=35
  1025. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | rel=r_associated | relid=0 | w=35
  1026. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=35
  1027. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:clonazepam and diazepam may be effective in preventing or lessening severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=35
  1028. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:complete recovery upon treatment of hyperthyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=35
  1029. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:congenital disorders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital disorders | rel=r_associated | relid=0 | w=35
  1030. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:considered a benign disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=35
  1031. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:considered to be a variant of gaucher disease type iii (231000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=35
  1032. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome at chromosome 6p
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=35
  1033. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome of 5q31
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=35
  1034. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | rel=r_associated | relid=0 | w=35
  1035. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | rel=r_associated | relid=0 | w=35
  1036. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:cutaneous symptoms induced by cold exposure or cooling
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=35
  1037. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:date of analysis:tmstp:pt:xxx:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=35
  1038. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:de novo mutation | rel=r_associated | relid=0 | w=35
  1039. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:de novo mutation identified in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=35
  1040. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death before age 15 in iia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=35
  1041. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death before age 40
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death before age 40 | rel=r_associated | relid=0 | w=35
  1042. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death by age 15 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=35
  1043. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death can occur in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=35
  1044. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death due to respiratory failure or infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=35
  1045. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur due to infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=35
  1046. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death in childhood secondary to malabsorption
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=35
  1047. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death in first-second decade of life secondary to cardio-respiratory compromise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=35
  1048. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death in infancy common for patients with the classic neonatal form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=35
  1049. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death in infancy due to hyperthermia or apnea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=35
  1050. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death often by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=35
  1051. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death often secondary to infectious disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=35
  1052. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death usually in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=35
  1053. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death usually in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=35
  1054. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death usually in infancy due to respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=35
  1055. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:death usually occurs by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=35
  1056. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:defect in tetrahydrobiopterin (bh4) synthesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=35
  1057. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:described in individuals of jewish bukharian descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=35
  1058. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | rel=r_associated | relid=0 | w=35
  1059. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:diarrhea persists even with vigorous nursing
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=35
  1060. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:diarrhea worsens in parallel with increases in severity of skin disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=35
  1061. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=35
  1062. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:disease is life-threatening if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=35
  1063. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:distinct disorder from familial erythrocytosis (ecyt1, 133100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=35
  1064. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:distribution of lesions may be generalized, palmoplantar, or acral
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=35
  1065. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:dopa-unresponsive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=35
  1066. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=35
  1067. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:earlier onset is associated with more aggressive disease course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=35
  1068. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) | rel=r_associated | relid=0 | w=35
  1069. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:early death in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death in males | rel=r_associated | relid=0 | w=35
  1070. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:early death may occur due to infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=35
  1071. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:early onset has rarely been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=35
  1072. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:elevated afp can be seen in other disorders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=35
  1073. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:empiric risk for a sib of an affected child between 2 and 5%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=35
  1074. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=35
  1075. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:end-stage renal failure in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=35
  1076. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | rel=r_associated | relid=0 | w=35
  1077. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodes are triggered by hunger, fatigue, cold, stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=35
  1078. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodes brought on by fasting or infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=35
  1079. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodes of fatigue or weakness (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=35
  1080. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodes tend to decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=35
  1081. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodes usually last 1 to 2 days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=35
  1082. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:episodic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodic | rel=r_associated | relid=0 | w=35
  1083. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:estimated carrier frequency in charlevoix-saguenay region is 1/22
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=35
  1084. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:estimated gene carrier frequency of 1 in 5,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=35
  1085. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:estimated incidence of 1 in 17,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=35
  1086. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:exacerbation at puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=35
  1087. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:exacerbation of symptoms during or after pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=35
  1088. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:f syndrome (102510) has many overlapping features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=35
  1089. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:facial appearance becomes more apparent with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=35
  1090. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:fasting status:acnc:pt:^patient:ord:reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fasting status:acnc:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=35
  1091. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:favorable response of episodic attacks to acetazolamide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=35
  1092. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:favorable response to flunarizine
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=35
  1093. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:favorable response to l-dopa without side effects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=35
  1094. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:features in addition to mental retardation are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=35
  1095. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:febrile seizures remit by age 5 or 6
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=35
  1096. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:female to male ratio, 1:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=35
  1097. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:females demonstrate lyonization with corresponding phenotypic variation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=35
  1098. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:females more severely affected than males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=35
  1099. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:few patients with mild to moderate mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=35
  1100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:fifty percent of cases are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=35
  1101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:first described in gypsy group from bulgaria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=35
  1102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:five patients have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35
  1103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:five unrelated patients have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  1104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:found predominantly in the amish population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=35
  1105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:founder effect in turkish families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=35
  1106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=35
  1107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:four families have been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=35
  1108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:four patients have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=35
  1109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:four patients have been reported (as of december 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=35
  1110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=35
  1111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:frequency between 1 in 58,000 to 1 in 1,000,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=35
  1112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=35
  1113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:frequently occurs in navajo children, especially in western reservations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=35
  1114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:full recovery after attacks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=35
  1115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic anticipation associated with progressive telomere shortening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=35
  1116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 116800 for summary)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=35
  1117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 214300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=35
  1118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 304800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=35
  1119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 607634)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=35
  1120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt2b2, 605589)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=35
  1121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt4b2, 604563)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=35
  1122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see coxpd1, 609060)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=35
  1123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=35
  1124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see feb1 121210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=35
  1125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see hhf1 256450)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=35
  1126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see lqt1 192500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=35
  1127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see madb, 608612)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=35
  1128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see mks2 603194 and mks3 607361)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see mks2 603194 and mks3 607361) | rel=r_associated | relid=0 | w=35
  1129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see sca1 (164400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=35
  1130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:global developmental delay
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:global developmental delay | rel=r_associated | relid=0 | w=35
  1131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:good response to steroid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=35
  1132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:gradual progression of hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=35
  1133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:gradual spontaneous improvement in the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=35
  1134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:green color resolves if cholestasis is treated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=35
  1135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:half of cases show retarded head circumference equal to height retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=35
  1136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:hands clenched at birth but loosen in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=35
  1137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:hearing loss ma be fluctuating or progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=35
  1138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:hemolysis may be exercise-induced
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=35
  1139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:heterozygotes are not affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=35
  1140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=35
  1141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=35
  1142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:high frequency in tibetan individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=35
  1143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:high frequency of absence seizures (several per day)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=35
  1144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:high frequency of levodopa-induced dyskinesias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=35
  1145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:high incidence of e. coli sepsis in untreated neonates
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=35
  1146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:high prevalence among individuals of middle eastern or african descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=35
  1147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:highly variable age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=35
  1148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:highly variable pathologic phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=35
  1149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=35
  1150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:hyperkeratosis triggered by chronic mechanical irritation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=35
  1151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:hypertension is presenting sign
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=35
  1152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=35
  1153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:immunosuppressive therapy may be beneficial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=35
  1154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:impaired healing
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:impaired healing | rel=r_associated | relid=0 | w=35
  1155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | rel=r_associated | relid=0 | w=35
  1156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:in severe attacks, hemiplegia or coma may last days to weeks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=35
  1157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:in some patients, qtc interval is prolonged only during exercise testing
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=35
  1158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence 1 in 20,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=35
  1159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence 1 in 8,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=35
  1160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence 1-1.5/1,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=35
  1161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence 5-50 per million (children) and 10-40 per million (adults)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=35
  1162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 320,000 births among non-jewish persons
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=35
  1163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 40,000 infants worldwide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=35
  1164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:incidence of 1/50,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=35
  1165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:increased frequency among jewish iranian individuals from isfahan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=35
  1166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:increased frequency in finland (prevalence of 1 in 20,000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=35
  1167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=35
  1168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:increased frequency in persian jews (1:1,300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=35
  1169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:increased susceptibility to infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=35
  1170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | rel=r_associated | relid=0 | w=35
  1171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:intrafamilial variability in degree of hypotrichosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=35
  1172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:juvenile and adult forms are isolated glycerol kinase deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=35
  1173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | rel=r_associated | relid=0 | w=35
  1174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:laboratory findings are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=35
  1175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:late adult onset (after age 55 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=35
  1176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:later onset of hearing loss in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=35
  1177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:left side involvement more frequent than right side involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=35
  1178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:length of time post dose:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  1179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:lesions apparent at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=35
  1180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:lethal in 40% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=35
  1181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:levodopa-induced dyskinesias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=35
  1182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=35
  1183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=35
  1184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:limited clinical information provided on patients with bbs7 mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=35
  1185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=35
  1186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:loss of independent ambulation due to muscle weakness in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=35
  1187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:loss of independent walking by teenage years (in some)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=35
  1188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:lymphedema that presents at puberty is called meige disease (153200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=35
  1189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:majority are sporadic cases, affected sibs have been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=35
  1190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:majority of cases are sporadic, often in tall, thin men
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=35
  1191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:majority of cases have bilateral involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=35
  1192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:majority of patients are pyridoxine-responsive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=35
  1193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:manifestations of cushing syndrome may be mild
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=35
  1194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:many patients are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=35
  1195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:many patients become wheelchair-bound by second or third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=35
  1196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:many patients die by 1-3 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=35
  1197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may be benign condition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be benign condition | rel=r_associated | relid=0 | w=35
  1198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may be lethal in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=35
  1199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may be progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be progressive | rel=r_associated | relid=0 | w=35
  1200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may progress to other body regions after many years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=35
  1201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may regress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may regress | rel=r_associated | relid=0 | w=35
  1202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may regress in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=35
  1203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may result in death in neonatal period or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=35
  1204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:may show good response to levodopa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=35
  1205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset 16.5 years (range 9 to 35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=35
  1206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset 27 years (range 9 to 42)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=35
  1207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset 35 years (range 20-60)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=35
  1208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset of cerebellar ataxia is 52.8 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=35
  1209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset of dementia is 57 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=35
  1210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age at onset of proximal muscle weakness, 31 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=35
  1211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age of diagnosis 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=35
  1212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age of onset 16 to 19 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=35
  1213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mean age of onset 18 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=35
  1214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | rel=r_associated | relid=0 | w=35
  1215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mild asymmetric regional disease (e.g. 180380.0029)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=35
  1216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=35
  1217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:milder form with onset in childhood, absence seizures, and learning difficulties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=35
  1218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:moderate age-related improvement of pancreatic function
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=35
  1219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:more common in men (9:1 male:female ratio)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=35
  1220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:more frequent in individuals of asian descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=35
  1221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:more frequent in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more frequent in males | rel=r_associated | relid=0 | w=35
  1222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:more prevalent in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=35
  1223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most carrier females have mild mental retardation and subtle facial changes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=35
  1224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most cases result from a de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=35
  1225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most cases result from de novo mutation or deletion of rai1 (607642)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=35
  1226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most cases sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=35
  1227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most common age of clinical onset ranges from 16 to 33 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=35
  1228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most common form of inherited, congenital hydrocephalus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=35
  1229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most common form of porphyria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=35
  1230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most common inherited ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=35
  1231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most common inherited bleeding disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=35
  1232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most have onset in first or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=35
  1233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most mutations occur de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=35
  1234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most patients are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are female | rel=r_associated | relid=0 | w=35
  1235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) | rel=r_associated | relid=0 | w=35
  1236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most patients die within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=35
  1237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=35
  1238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most patients have severe streptococcus pneumoniae infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=35
  1239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) | rel=r_associated | relid=0 | w=35
  1240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:movements worsened by anxiety
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=35
  1241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=35
  1242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mutation found in 1 puerto rican family (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=35
  1243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=35
  1244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | rel=r_associated | relid=0 | w=35
  1245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:mutations occur de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=35
  1246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:nails may be intermittently involved
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=35
  1247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:narcolepsy and deafness are the first symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=35
  1248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:natural aversion to carbohydrates and favoring of protein
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=35
  1249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:nearly 100% penetrance by 60 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=35
  1250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:neonatal death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal death | rel=r_associated | relid=0 | w=35
  1251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:neonatal lethal due to respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=35
  1252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:neurologic features are variable and not progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=35
  1253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:neuromuscular forms can present as perinate, infant, child, or adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=35
  1254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:new skin lesions stop appearing before adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=35
  1255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:night blindness from early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=35
  1256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:no chronic or permanent liver damage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=35
  1257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:no family history of
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no family history of | rel=r_associated | relid=0 | w=35
  1258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:no increased fragility of hair
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=35
  1259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:no phenotype in heterozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=35
  1260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:no situs inversus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no situs inversus | rel=r_associated | relid=0 | w=35
  1261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:nonprogressive hepatic form is less frequent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=35
  1262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:nonreflex epilepsy may occur later in 16 to 38% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=35
  1263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:normal first month
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal first month | rel=r_associated | relid=0 | w=35
  1264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:obligatory heterozygotes are clinically unaffected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=35
  1265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:occurs in ~3% pregnancies in western populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=35
  1266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=35
  1267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one chinese family with 14 affected individuals has been described (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=35
  1268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=35
  1269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=35
  1270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one consanguineous moroccan family has been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
  1271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one consanguineous saudi arabian family has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=35
  1272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one family has been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=35
  1273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  1274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one family has been reported and no additional clinical features were provided (last curated june 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | rel=r_associated | relid=0 | w=35
  1275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one family with confirmed genetic basis has been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  1276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one french family has been reported (as of march 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
  1277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one italian family has been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  1278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient died at age 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=35
  1279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of december 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=35
  1280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35
  1281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated january 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=35
  1282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=35
  1283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=35
  1284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  1285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:only female patients reported (last curated october 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=35
  1286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset 0-12 hours after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=35
  1287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset 2-4 years of age in iia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=35
  1288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset 20-55 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=35
  1289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset 5 to 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=35
  1290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset 6 months to 2.5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=35
  1291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset ages 2 to 14 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=35
  1292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset and diagnosis may occur later (after age 20 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=35
  1293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset around age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=35
  1294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset at 4 to 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=35
  1295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset at age 3-5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=35
  1296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset at age 36 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=35
  1297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset at age 5 to 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=35
  1298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset before 18 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=35
  1299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=35
  1300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset between 1-3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=35
  1301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset between 5 and 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=35
  1302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset between age 2 and 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=35
  1303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset birth to 6 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=35
  1304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset early in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=35
  1305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in adolescence or young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=35
  1306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in childhood (6-7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=35
  1307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in childhood (ages 1.5 to 7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=35
  1308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in childhood (usually before age 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=35
  1309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in early childhood (infancy to age 7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=35
  1310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in early childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=35
  1311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in first 2 decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=35
  1312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade | rel=r_associated | relid=0 | w=35
  1313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in first decade (birth to age 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=35
  1314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in first months or years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=35
  1315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in first or second decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=35
  1316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in infancy (average 4 months, but may be earlier)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=35
  1317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in infancy (first year of life)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=35
  1318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in infancy after normal birth and neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=35
  1319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in infancy was reported in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=35
  1320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in late teens to early forties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=35
  1321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in late twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=35
  1322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in mid to late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=35
  1323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second decade | rel=r_associated | relid=0 | w=35
  1324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in teens to 20's
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=35
  1325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in the sixth or seventh decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=35
  1326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset in third to fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=35
  1327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset late childhood (8 to 14 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset late childhood (8 to 14 years) | rel=r_associated | relid=0 | w=35
  1328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset may occur in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=35
  1329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of acanthosis nigricans correlates with onset of diabetes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=35
  1330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of arthritis in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=35
  1331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of calf hypotrophy may occur earlier
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=35
  1332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=35
  1333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of cardiomyopathy may occur several months after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=35
  1334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of dilated cardiomyopathy less than 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=35
  1335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of disease 3-30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=35
  1336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of dystonia is in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=35
  1337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of fractures in infancy to early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=35
  1338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of kyphosis in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=35
  1339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of liver involvement in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=35
  1340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of neuromuscular symptoms between 6 months and 1 year of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=35
  1341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of optic atrophy in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=35
  1342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of optic neuropathy is usually in early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=35
  1343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of seizures between 8 and 11 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=35
  1344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of seizures in first months of life (usually 4 to 7 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=35
  1345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of sleepwalking between 4 and 8 years old
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=35
  1346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=35
  1347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset of tumors usually in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=35
  1348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset prenatally or at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=35
  1349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset ranges from childhood to young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=35
  1350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset soon after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=35
  1351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset soon after birth or within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=35
  1352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset usually at birth, but may occur later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=35
  1353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood (range 6 months to 16 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=35
  1354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:onset usually in third decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=35
  1355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=35
  1356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:partially responsive to laser treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=35
  1357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients achieve ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=35
  1358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients become wheelchair-bound about 10 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=35
  1359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients can have als, ftd, or both
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=35
  1360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients have no abnormalities of hair, teeth, or bone
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=35
  1361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=35
  1362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=35
  1363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients usually require total thyroidectomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=35
  1364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients with homozygous mutations have a more severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=35
  1365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients with later onset have better prognosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=35
  1366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients with mutation in the nhlrc1 gene have slightly longer survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=35
  1367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:patients with t2 deficiency and urinary abnormalities may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=35
  1368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:pedigrees compatible with autosomal dominant inheritance have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=35
  1369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:performing laboratory name:identifier:point in time:facility:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=35
  1370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=35
  1371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:periodontium is less severely affected than in papillon-lefevre syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=35
  1372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:periventricular heterotopia (300049) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=35
  1373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities | rel=r_associated | relid=0 | w=35
  1374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=35
  1375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with frontotemporal dementia (600274)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=35
  1376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=35
  1377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:phenotypic variation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=35
  1378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:pneumocytosis carinii infection (12 to 42%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=35
  1379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:poor response to the c5 inhibitor eculizumab
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=35
  1380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:positive family history in 12-33% patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=35
  1381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:possibly x-linked recessive inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=35
  1382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prenatal onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal onset | rel=r_associated | relid=0 | w=35
  1383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prenatal or neonatal onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=35
  1384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:presentation at 3-6 weeks of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=35
  1385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | rel=r_associated | relid=0 | w=35
  1386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:presents at birth or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=35
  1387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalence in norway is 1 in 80,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=35
  1388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalence in slovenia is 1 in 43,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=35
  1389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalence of sleepwalking up to 26% in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=35
  1390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalence ranges from 1 in 12,000 to 1 in 50,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=35
  1391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalent among patients of asian descent, particularly japanese
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=35
  1392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalent in arabic, turkish, armenian, and sephardic jewish populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=35
  1393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalent in bulgarian gypsies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=35
  1394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalent in north africa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=35
  1395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prevalent in the old order amish in the u.s. and in finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=35
  1396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:primary teeth affected greater than secondary teeth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=35
  1397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:progressive clinical course with onset in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=35
  1398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:progressive disorder, usually with rapid, relentless course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=35
  1399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:prominent psychiatric symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=35
  1400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:rare adult cases reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=35
  1401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:rarely reported in infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=35
  1402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:rarely, patients may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=35
  1403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=35
  1404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:reason for lab test:type:pt:bld.dot:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=35
  1405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:relapsing-remitting course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=35
  1406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:relatively mild cutis laxa, associated with severe vascular abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=35
  1407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:reported in individuals of jewish moroccan ancestry
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=35
  1408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:responsive to treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=35
  1409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=35
  1410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:right side affected greater than left side
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=35
  1411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:second most common form of usher syndrome type i
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=35
  1412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=35
  1413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=35
  1414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see also dent disease 2 (300555)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=35
  1415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see also the lethal neonatal (608836) and infantile (600649) forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=35
  1416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see also two x-linked forms 300633 and 300758
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=35
  1417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:see ebn1 (121200) for an autosomal dominant form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=35
  1418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:seizure onset in first months or years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=35
  1419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:seizure severity and frequency tend to improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=35
  1420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:seizures are easily controlled by medications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=35
  1421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:seizures occur upon awakening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=35
  1422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:severe clinical course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe clinical course | rel=r_associated | relid=0 | w=35
  1428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe disorder | rel=r_associated | relid=0 | w=35
  1429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:severe infantile cases usually die by 6 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=35
  1430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:sexual infantilism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=35
  1431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:significant number of patients are stillborn or die in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=35
  1432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:similar clinical phenotype to edsiii (130020)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=35
  1433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=35
  1434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=35
  1435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:six patients from 1 saudi arabian family have been reported (last curated december 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=35
  1436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=35
  1437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skeletal abnormalities are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=35
  1438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin abnormalities can be present at birth or appear later in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=35
  1439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin abnormalities tend to decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=35
  1440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin blistering and photosensitivity improve in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=35
  1441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin lesions manifest in the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=35
  1442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin lesions resolve between 6 months and 2 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=35
  1443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | rel=r_associated | relid=0 | w=35
  1444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:skin wrinkling improves with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=35
  1445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some familial occurrence, most de novo aberrations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=35
  1446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features are variable | rel=r_associated | relid=0 | w=35
  1447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some features are variable, even within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=35
  1448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=35
  1449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients acquire late ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=35
  1450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients develop diabetes mellitus as adolescents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=35
  1451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations | rel=r_associated | relid=0 | w=35
  1452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients have asymptomatic hypocalcemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=35
  1453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients have no or mild manifestations and normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=35
  1454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients may lose independent ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=35
  1455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients may show neurologic improvement late in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=35
  1456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:some patients survive infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=35
  1457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:sporadic occurrence is associated with advanced paternal age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=35
  1458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:stillborn or death shortly after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=35
  1459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:subtype 3c (231005) comprises cardiovascular calcifications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=35
  1460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:sudden cardiac death in some families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=35
  1461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:sudden death within first days of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=35
  1462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:sudden infantile death may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=35
  1463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:survival to 20 years in severe form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=35
  1464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:survival to advanced age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=35
  1465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:survivors may develop renal insufficiency and hepatic dysfunction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=35
  1466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:symptoms ameliorate with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=35
  1467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:symptoms develop immediately after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=35
  1468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:symptoms of zinc deficiency occur only in exclusively breastfed infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=35
  1469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:symptoms often improve gradually with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=35
  1470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:t-cell lymphopenia is more severe early in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=35
  1471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:teeth may undergo post-eruptive changes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=35
  1472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:the lower the s-ado:saicr ratio, the more severe the phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the lower the s-ado:saicr ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=35
  1473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:therapy-induced dyskinesias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=35
  1474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:those with intermediate repeat expansions show reduced penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=35
  1475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:three families have been reported (last curated april 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=35
  1476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia | rel=r_associated | relid=0 | w=35
  1477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=35
  1478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (as of june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35
  1479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:three unrelated patients have been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  1480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:thromboembolism is the most common cause of death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=35
  1481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:trauma may accelerate symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=35
  1482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:treatment with bh4 is effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=35
  1483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:treatment with enzyme replacement therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=35
  1484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two chinese sisters and one chinese woman have been described (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=35
  1485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families described (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=35
  1486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families have been reported (as of 6/2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=35
  1487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families have been reported (as of march 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
  1488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families have been reported (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=35
  1489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families have been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=35
  1490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families reported (last curated february 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=35
  1491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two families reported with 2 sibs each (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families reported with 2 sibs each (last curated october 2012) | rel=r_associated | relid=0 | w=35
  1492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | rel=r_associated | relid=0 | w=35
  1493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two pakistani families have been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=35
  1494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two patients reported (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=35
  1495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35
  1496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two sibs have been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35
  1497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two sisters have been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  1498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=35
  1499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=35
  1500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=35
  1501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  1502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  1503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  1504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=35
  1505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (as of june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35
  1506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:type 2n is characterized by decreased binding affinity for factor viii
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=35
  1507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:type i is infantile-onset, severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=35
  1508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:typically no physical features of albright hereditary osteodystrophy (aho)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=35
  1509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation | rel=r_associated | relid=0 | w=35
  1510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:up to 50% of patients may have various additional congenital anomalies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=35
  1511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:usually fatal in first 2 decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=35
  1512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:usually fatal within the first few weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=35
  1513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:usually occurs in young adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=35
  1514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:usually presents in third to fourth decade (but onset can range from childhood to elderly)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=35
  1515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:usually sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually sporadic | rel=r_associated | relid=0 | w=35
  1516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (birth to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=35
  1517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (earliest reported 7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=35
  1518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=35
  1519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range childhood to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=35
  1520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range infancy to 30 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=35
  1521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range infancy to late adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=35
  1522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset, infancy to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=35
  1523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable age at onset, range infancy to adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=35
  1524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable clinical severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=35
  1525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable disease severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable disease severity | rel=r_associated | relid=0 | w=35
  1526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable distribution, may be focal, segmental, multifocal, or generalized
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=35
  1527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable ictal semiology
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=35
  1528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable manifestations | rel=r_associated | relid=0 | w=35
  1529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable pattern of body involvement although symptoms may predominate in upper or lower body
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=35
  1530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable phenotype (range from completely female to males with mild undermasculinization)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=35
  1531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable response to levodopa treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=35
  1532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable severity of phenotype and other features may be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=35
  1533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variable severity, even within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=35
  1534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:variably severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variably severity | rel=r_associated | relid=0 | w=35
  1535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:venous malformations previously referred to as angiomas or hemangiomas
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=35
  1536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:very few patients reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:very few patients reported | rel=r_associated | relid=0 | w=35
  1537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=35
  1538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:waddling gate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:waddling gate | rel=r_associated | relid=0 | w=35
  1539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:wide phenotypic variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=35
  1540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:young adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:young adult onset | rel=r_associated | relid=0 | w=35
  1541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 35 / 0.814 -> en:young-adult onset (18-30 years) of sensory ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=35
  1542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:(2) juvenile or adolescent nephropathic (219900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=34
  1543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=34
  1544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:15% cases are familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=34
  1545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:2 patients described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:2 patients described | rel=r_associated | relid=0 | w=34
  1546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:20% die before age one (usually secondary to renal or laryngeal defects)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=34
  1547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:35% of patients have facial dysmorphism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=34
  1548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=34
  1549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:75% of affected individuals are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=34
  1550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:a mutation in the cxorf5 gene has been reported in 1 affected family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=34
  1551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:accounts for approximately 5% of the epilepsies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=34
  1552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:acetazolamide may benefit attacks of vertigo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=34
  1553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:acquired disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired disorder | rel=r_associated | relid=0 | w=34
  1554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=34
  1555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | rel=r_associated | relid=0 | w=34
  1556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult form onset has after 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=34
  1557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=34
  1558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset (range 15 to 53 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=34
  1559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset (range 34 to 66 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=34
  1560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset (range 45 to 70 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=34
  1561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset (second to sixth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=34
  1562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset of symptoms has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=34
  1563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:adult onset, usually 30's to 40's, but up to early 60's
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=34
  1564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:affected females may have increased spontaneous abortions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=34
  1565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=34
  1566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:affected individuals are highly prone to burn-related injuries
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=34
  1567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:affects between 1 in 200 to 1 in 400 individuals of northern european descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=34
  1568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age at diagnosis 2-4 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=34
  1569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age at onset 14 to 44 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=34
  1570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age at onset 15 to 33 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=34
  1571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age of onset - birth to 15 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=34
  1572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age of onset from 18 to 45 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=34
  1573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age of onset of upper limb involvement 10-43 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=34
  1574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age of onset usually 1 week to 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=34
  1575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:age of onset varies between 18 years and 53 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=34
  1576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to autosomal dominant form (129490)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=34
  1577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | rel=r_associated | relid=0 | w=34
  1578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=34
  1579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=34
  1580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=34
  1581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=34
  1582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=34
  1583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=34
  1584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to potassium-aggravated myotonia (608390)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=34
  1585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=34
  1586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to rett syndrome (312750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=34
  1587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=34
  1588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorders with clinical overlap include dss and cmt1b (118200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=34
  1589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) | rel=r_associated | relid=0 | w=34
  1590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to acrocapitofemoral dysplasia (607778)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=34
  1591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to deafness, autosomal recessive 23 (609533)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=34
  1592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=34
  1593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to leopard syndrome (151100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=34
  1594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=34
  1595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to mucopolysaccharidosis ivb
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=34
  1596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=34
  1597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic to waardenburg syndrome, type iia (193510)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=34
  1598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=34
  1599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:almost all patients require total parenteral nutrition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=34
  1600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=34
  1601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:approximately 60% of cases are due to somatic mutations and are unilateral
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=34
  1602. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:approximately half of cases are due to unbalanced rearrangements, which may be familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=34
  1603. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:approximately half of patients need ambulatory support after the fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=34
  1604. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:arthralgia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:arthralgia | rel=r_associated | relid=0 | w=34
  1605. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:attacks may present during or after sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
  1606. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:attacks often drug-induced
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=34
  1607. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:attacks rarely occur before puberty (hcp)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=34
  1608. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:autosomal dominant and autosomal recessive forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=34
  1609. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=34
  1610. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:autosomal recessive cases have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=34
  1611. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance has been described in 2 families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=34
  1612. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=34
  1613. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:basal cell neoplasms develop after second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=34
  1614. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:based on one report of brother and sister
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=34
  1615. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=34
  1616. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:benign condition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:benign condition | rel=r_associated | relid=0 | w=34
  1617. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=34
  1618. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:bleeding after trauma or surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=34
  1619. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:bleeding is usually delayed-onset after challenge
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=34
  1620. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:blistering and erosions tend to occur on extensor surfaces or over bony prominences
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=34
  1621. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:both autosomal dominant and autosomal recessive inheritance has been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=34
  1622. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=34
  1623. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:both reported cases survived beyond infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=34
  1624. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:brain mri abnormalities show improvement with time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=34
  1625. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:broad-based gait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:broad-based gait | rel=r_associated | relid=0 | w=34
  1626. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:can be treated by bone marrow transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=34
  1627. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | rel=r_associated | relid=0 | w=34
  1628. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:carrier females have arthralgias in middle age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=34
  1629. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:carrier females may present with postpartum hyperammonemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=34
  1630. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:cataracts present at birth or develop in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=34
  1631. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:cataracts variably present at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=34
  1632. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=34
  1633. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:childhood onset (range birth to 12 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=34
  1634. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:childhood onset rarely occurs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=34
  1635. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:citation:bib:pt:reference lab test:nar
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=34
  1636. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:clinical and biochemical abnormalities disappear with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=34
  1637. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | rel=r_associated | relid=0 | w=34
  1638. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:clinical presentation varies from asymptomatic to fulminant course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=34
  1639. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:clinically classified into classic, atypical, and intermediate phenotypes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=34
  1640. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=34
  1641. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:complete manifestation in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=34
  1642. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:contiguous gene deletion syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=34
  1643. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:crisis precipitated by high altitude exposure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=34
  1644. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:cutaneous leiomyomas increase in number over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=34
  1645. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:deafness is presenting symptom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=34
  1646. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in childhood may occur due to end-stage renal disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=34
  1647. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in early infancy (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=34
  1648. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in first months of life | rel=r_associated | relid=0 | w=34
  1649. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy | rel=r_associated | relid=0 | w=34
  1650. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in infancy (1 patient)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=34
  1651. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in infancy secondary to kernicterus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=34
  1652. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in majority of infants soon after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=34
  1653. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=34
  1654. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in perinatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=34
  1655. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death in utero or in the perinatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=34
  1656. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death may occur in late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=34
  1657. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death occurs 5 to 10 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=34
  1658. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death usually in the first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=34
  1659. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:death usually within first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=34
  1660. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:decrease in seizure frequency in middle age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=34
  1661. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:decreased life expectancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=34
  1662. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=34
  1663. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:delayed separation of umbilical cord
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=34
  1664. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | rel=r_associated | relid=0 | w=34
  1665. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:described in 3 unrelated infants (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=34
  1666. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:described in 6 japanese families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=34
  1667. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:described in one 5-generation pakistani family (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=34
  1668. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:diagnosed in second or third decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=34
  1669. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) | rel=r_associated | relid=0 | w=34
  1670. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=34
  1671. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:disorder usually remains stable over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=34
  1672. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) | rel=r_associated | relid=0 | w=34
  1673. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:distinct disorder from familial limb-girdle myasthenia (254200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=34
  1674. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:dwarfism not detectable at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=34
  1675. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:dysarthria, dysphonia, or cough precede onset of ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=34
  1676. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:dysmorphic facial features are subtle
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=34
  1677. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early adult onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=34
  1678. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early age of onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early age of onset | rel=r_associated | relid=0 | w=34
  1679. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early age of onset (approximately 45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=34
  1680. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early death from respiratory failure may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=34
  1681. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early death in patients with cloverleaf skull
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=34
  1682. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early death in some patients due to cardiorespiratory involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=34
  1683. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early death in the first few weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=34
  1684. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early death without kidney transplant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=34
  1685. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early onset (1 month to 4 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=34
  1686. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=34
  1687. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early treatment can reduce neurologic symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=34
  1688. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:early-onset associated with more severe course and early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=34
  1689. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:electrolyte imbalances can mimic renal bartter syndrome (601678)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=34
  1690. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:endocrine abnormalities confined to kidney
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=34
  1691. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:epilepsy with grand mal seizures on awakening (egma, 607628)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=34
  1692. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=34
  1693. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:episodes not triggered by alcohol, caffeine, or stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=34
  1694. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:episodes typically last 2 to 5 minutes and occur daily or several times per month
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=34
  1695. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:episodic metabolic decompensation usually associated with illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=34
  1696. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:evidence of incomplete penetrance in one family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=34
  1697. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:exacerbations during infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=34
  1698. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:excessive skin picking of sores
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=34
  1699. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:extrapyramidal signs show a favorable response to levodopa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=34
  1700. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:facial dysmorphism is age-related and alters substantially over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=34
  1701. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:favorable response to high-dose steroids
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=34
  1702. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:favorable response to treatment with minocycline or azithromycin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=34
  1703. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:favorable response to ursodeoxycholic acid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=34
  1704. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=34
  1705. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:features usually appear during adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=34
  1706. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:female carriers may have cardiac defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=34
  1707. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:female carriers may have subtle manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=34
  1708. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:females often show milder phenotype with later onset of cardiac symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=34
  1709. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:first name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=34
  1710. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:focal or segmental onset in cranial-cervical area or upper limbs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=34
  1711. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:four families have been reported (last curated june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=34
  1712. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:four patients have been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=34
  1713. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:fracture frequency decreased post puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=34
  1714. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:fractures occur in first few months, then decrease in frequency and then occur with ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=34
  1715. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:gait difficulties and beginning of cognitive decline in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=34
  1716. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic anticipation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=34
  1717. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 209850)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=34
  1718. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 606215)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=34
  1719. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=34
  1720. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see mcc2 deficiency 210210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=34
  1721. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=34
  1722. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=34
  1723. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=34
  1724. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see lgmd2a (253600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=34
  1725. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=34
  1726. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see spg3a (182600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=34
  1727. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:good response to clonazepam
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=34
  1728. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:good response to vitamin d treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=34
  1729. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=34
  1730. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:group a patients die in the first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=34
  1731. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:hearing loss is pre- or perilingual in onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=34
  1732. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:heterozygotes have mild, transient hypothyroidism in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=34
  1733. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may have late-onset of mild symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=34
  1734. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:high incidence among old order amish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=34
  1735. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:high intrafamilial and interfamilial variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=34
  1736. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:high prevalence in japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=34
  1737. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=34
  1738. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype, ranging from asymptomatic to death by age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=34
  1739. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=34
  1740. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:histologic features overlap with henoch-schonlein purpura (hspn)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=34
  1741. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | rel=r_associated | relid=0 | w=34
  1742. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=34
  1743. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence 1 in 6,000 to 1 in 8,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=34
  1744. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence 7-15% in pacific island populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=34
  1745. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence 8/1,000 newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=34
  1746. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence in united states of 1 in 55,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=34
  1747. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=34
  1748. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 3,500 boys
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=34
  1749. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 39,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=34
  1750. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 5,000 to 1 in 10,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=34
  1751. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence of 4 per million per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=34
  1752. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incidence worldwide of 1 in 30,000 to 50,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=34
  1753. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=34
  1754. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance (50%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=34
  1755. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance of optic atrophy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=34
  1756. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance with 45 to 51 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=34
  1757. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:increased frequency among individuals of east asian descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=34
  1758. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:increased prevalence among the finnish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=34
  1759. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:increased prevalence in the french-canadian population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=34
  1760. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:increased sensitivity to heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=34
  1761. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | rel=r_associated | relid=0 | w=34
  1762. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:infant death may occur secondary to sepsis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=34
  1763. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=34
  1764. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=34
  1765. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:internal organ rupture may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=34
  1766. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:involuntary and nonvolitional phenomenon
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=34
  1767. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:joint replacement often necessary
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=34
  1768. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:joint symptoms begin in third or fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=34
  1769. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:juvenile onset 4 years to puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=34
  1770. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:kid syndrome and hid syndrome are identical at the molecular level
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=34
  1771. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:lack of treatment results in early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=34
  1772. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:late infantile onset 6-24 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=34
  1773. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:late-onset, slowly progressing form of retinitis pigmentosa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=34
  1774. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:later onset has been rarely reported (up to age 68 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=34
  1775. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:later onset in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset in females | rel=r_associated | relid=0 | w=34
  1776. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:later onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset may occur | rel=r_associated | relid=0 | w=34
  1777. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:leg pain during childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=34
  1778. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:lesions are present at birth or become apparent in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=34
  1779. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:levodopa-responsive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=34
  1780. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=34
  1781. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:linked to 10q24 trisomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=34
  1782. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:liveborn often die within first week of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=34
  1783. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:liver involvement can range from mild to severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=34
  1784. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=34
  1785. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:majority of cases occur in brazilian population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=34
  1786. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:majority of children die between 6 months and 5 yrs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=34
  1787. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:majority of patients from italy and southwestern united states
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=34
  1788. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:majority of patients have normal intelligence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=34
  1789. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:majority of por deficiency patients have an abs-like phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=34
  1790. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:male-to-female ratio of 3:2 in childhood cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=34
  1791. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:males may be more affected than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=34
  1792. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:many adults with typical form remain ambulatory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=34
  1793. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:many cases are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=34
  1794. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:many patients become wheelchair-bound later in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=34
  1795. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:many patients recover normally
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=34
  1796. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=34
  1797. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:maternal anticipation bias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=34
  1798. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:maternal imprinting
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=34
  1799. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:maternal uniparental disomy (upd)7 reported in some cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=34
  1800. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:may progress to upper limbs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=34
  1801. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age at onset 22 years (range 7 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=34
  1802. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age at onset 32 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=34
  1803. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age at onset for variant cjd is 29 years (before age 45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=34
  1804. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age at resolution of symptoms 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=34
  1805. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age of onset 22 years (range 5-54)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=34
  1806. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mean age of onset 56 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=34
  1807. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:median age of diagnosis is 28 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=34
  1808. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:meiotic origin >95% maternal, mostly meiosis i
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=34
  1809. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:middle age onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:middle age onset | rel=r_associated | relid=0 | w=34
  1810. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mild involvement of face and arms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=34
  1811. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mild to severe forms of disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=34
  1812. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:minimum duplication includes bhlha9 (615416)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=34
  1813. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:more common in females (male:female ratio 4:1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=34
  1814. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:more common in men than women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in men than women | rel=r_associated | relid=0 | w=34
  1815. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most cases are isolated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=34
  1816. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients die in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=34
  1817. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients die in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=34
  1818. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients die of renal failure in early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=34
  1819. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients have de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=34
  1820. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | rel=r_associated | relid=0 | w=34
  1821. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients require ambulatory aids about 10 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients require ambulatory aids about 10 years after onset | rel=r_associated | relid=0 | w=34
  1822. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most patients require liver transplantation within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=34
  1823. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:most retain independent ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=34
  1824. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:motor skills less affected than cognitive skills
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=34
  1825. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:multiple prenatal fractures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=34
  1826. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mutant alleles have 47 to 63 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=34
  1827. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | rel=r_associated | relid=0 | w=34
  1828. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=34
  1829. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:n-myc oncogene (164840) amplification is associated with poor prognosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=34
  1830. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:nails appear normal at birth, with dystrophic changes developing within the first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=34
  1831. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=34
  1832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:neurologic features have been diagnosed in ~30% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=34
  1833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms are not always present or may appear late
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=34
  1834. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:nine patients have been reported in detail (as of 14 june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=34
  1835. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no abnormalities of hair, teeth, or bones
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=34
  1836. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no congenital form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no congenital form | rel=r_associated | relid=0 | w=34
  1837. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no family history, de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=34
  1838. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no history of familial hypercholesterolemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=34
  1839. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=34
  1840. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:no phenotypic manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=34
  1841. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:nonprogressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonprogressive | rel=r_associated | relid=0 | w=34
  1842. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=34
  1843. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:normal birth (finding)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=34
  1844. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=34
  1845. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:normal in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=34
  1846. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:normal neonatal course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=34
  1847. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:occasional adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=34
  1848. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:occurs in the absence of trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=34
  1849. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | rel=r_associated | relid=0 | w=34
  1850. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:often associated with chiari type i malformation (cm1, 118420)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=34
  1851. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:often confused with tuberous sclerosis (191000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=34
  1852. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:often presents with cranial or cervical involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=34
  1853. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:often results in death in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=34
  1854. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1855. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1856. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1857. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one consanguineous family of indian descent has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1858. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one consanguineous pakistani family has been reported (last curated june 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=34
  1859. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one consanguineous pakistani family has been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34
  1860. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one consanguineous turkish family has been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
  1861. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported | rel=r_associated | relid=0 | w=34
  1862. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=34
  1863. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family reported (as of may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=34
  1864. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family reported (last curated july 2008)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=34
  1865. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family reported (last curated november 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=34
  1866. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one family with 3 affected girls has been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1867. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one japanese family has been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1868. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=34
  1869. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one large family has been reported (as of 2008)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=34
  1870. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one large family has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1871. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one male and 3 unrelated females have been reported (last curated october 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one male and 3 unrelated females have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=34
  1872. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one pakistani reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  1873. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of may 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=34
  1874. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=34
  1875. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated november 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=34
  1876. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=34
  1877. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | rel=r_associated | relid=0 | w=34
  1878. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one patient showed improvement and was thriving at 46 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=34
  1879. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:one such patient has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one such patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1880. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:only apparent in patients taking eculizumab
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=34
  1881. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset 1-12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=34
  1882. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset after third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset after third decade | rel=r_associated | relid=0 | w=34
  1883. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset between 18 and 65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=34
  1884. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset between 2 and 4 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=34
  1885. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset between 28 and 42 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=34
  1886. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset between 6 and 12 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=34
  1887. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset bimodal, ages 16-22 and ages 57-60
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=34
  1888. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in childhood (5 to 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=34
  1889. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in childhood (range 1 to 9 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=34
  1890. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in childhood or young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=34
  1891. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in childhood, but most noticeable in mid-teens and early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=34
  1892. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in fifties or sixties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=34
  1893. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in first 2 decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=34
  1894. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=34
  1895. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in first weeks or months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=34
  1896. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in infancy or childhood (range 1 to 13 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=34
  1897. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in infancy or childhood (range 1 to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=34
  1898. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in late adulthood (44 to 73 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=34
  1899. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in second or third decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=34
  1900. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in teens has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=34
  1901. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in the first few months of life patients may need lifelong total parenteral nutrition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=34
  1902. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in the neonatal period (0-38 days)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=34
  1903. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset in the perinatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=34
  1904. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset late childhood | rel=r_associated | relid=0 | w=34
  1905. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of ataxia and neuropathy in early twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=34
  1906. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=34
  1907. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of diabetes in teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=34
  1908. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of disease between 25 and 40 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=34
  1909. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of disease in late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=34
  1910. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of dysmorphic features and developmental delay in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=34
  1911. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of gaze palsy at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=34
  1912. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=34
  1913. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of hypoglycemia and hyperinsulinism in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=34
  1914. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of illness often associated with acute infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=34
  1915. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of lymphedema around puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=34
  1916. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of mental impairment in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=34
  1917. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of normal pressure hydrocephalus after age 65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=34
  1918. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of proteinuria in the third to fourth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=34
  1919. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of seizures in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=34
  1920. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of skin manifestations from birth to puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=34
  1921. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of slowly progressive spastic paraplegia in first or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=34
  1922. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=34
  1923. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in first or second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=34
  1924. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in second or third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=34
  1925. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset of symptoms usually between 12-15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=34
  1926. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset ranges from childhood to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=34
  1927. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=34
  1928. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | rel=r_associated | relid=0 | w=34
  1929. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset usually in mid-teens, average 15 years (range 2 to 20 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=34
  1930. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset usually in the first 4 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=34
  1931. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset usually within first weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=34
  1932. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset within first 3 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=34
  1933. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:onset within first 6 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=34
  1934. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:opportunistic infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:opportunistic infection | rel=r_associated | relid=0 | w=34
  1935. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:oral contraceptives may also cause symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=34
  1936. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | rel=r_associated | relid=0 | w=34
  1937. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:overlapping clinical spectrum and allelic to masa syndrome (303350)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=34
  1938. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:overlapping features with barber-say syndrome (209885)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=34
  1939. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=34
  1940. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:pain is noted to feel cold
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=34
  1941. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 | rel=r_associated | relid=0 | w=34
  1942. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:partial laminin alpha-2 deficiency results in milder phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=34
  1943. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty | rel=r_associated | relid=0 | w=34
  1944. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients are severely disabled as adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=34
  1945. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients develop multiple tumors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=34
  1946. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients have severe anemia requiring regular transfusions for normal activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=34
  1947. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=34
  1948. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients may have benign course until late adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=34
  1949. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients may have seizures only, dyskinesia only, or both
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=34
  1950. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients may present with recurrent illnesses or infections, or shock
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=34
  1951. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients of brazilian origin have a pure cerebellar atrophy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=34
  1952. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with atypical form have milder disease, with onset in the first months of life and increased survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | rel=r_associated | relid=0 | w=34
  1953. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | rel=r_associated | relid=0 | w=34
  1954. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with meb may acquire ability to walk and a few words
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=34
  1955. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=34
  1956. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with null mutations have neonatal onset within 72 hours of birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=34
  1957. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days | rel=r_associated | relid=0 | w=34
  1958. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with residual enzyme activity have childhood or adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=34
  1959. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:patients with the autosomal recessive disorder have a more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=34
  1960. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:percentages based on review of 51 published cases (pmid 24891339)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=34
  1961. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:performing laboratory:addr:pt:facility:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=34
  1962. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:phenotype is classically defined as aplasia cutis and transverse limb defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=34
  1963. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=34
  1964. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:phenotypic similarities to leigh syndrome (256000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=34
  1965. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:phenotypic variation in severity and symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=34
  1966. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:phenotypically indistinguishable from hemophilia a (306700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=34
  1967. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:poor response to g-csf treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=34
  1968. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:predominantly occurs in young males with high rate of atopic disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=34
  1969. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prelingual onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prelingual onset | rel=r_associated | relid=0 | w=34
  1970. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prenatal diagnosis available
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=34
  1971. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prenatal diagnosis by ultrasound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=34
  1972. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | rel=r_associated | relid=0 | w=34
  1973. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:presentation between 6-18 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=34
  1974. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:presents at a later age than sporadic wilms tumor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=34
  1975. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:presents at a later stage than sporadic wilms tumor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=34
  1976. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=34
  1977. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence 1/10,000-1/15,000 female births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=34
  1978. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence estimated at 1 in 50,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=34
  1979. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 1,429 in tanzania
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=34
  1980. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 150 to 1 in 1,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=34
  1981. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 30,000 in northern europe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=34
  1982. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 70,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=34
  1983. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:primarily diagnosed in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=34
  1984. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:progression more frequent in men than women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=34
  1985. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:progressive disease is seen in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=34
  1986. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:rapidly progressive to persistent vegetative state or death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=34
  1987. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=34
  1988. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:recurrent bacterial infections with onset in the first or second year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=34
  1989. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:reduced exercise tolerance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=34
  1990. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:reduced life expectancy, death by 10 years of age in 70% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=34
  1991. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:reduced penetrance (approximately 87%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=34
  1992. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:reference lab test identifier:id:xxx:reference lab test:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=34
  1993. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:relief is achieved by cooling or by elevating the extremities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=34
  1994. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:repeat tracts may expand as patient ages (somatic instability)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=34
  1995. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:reported in individuals of amish or mennonite descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=34
  1996. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:resembles intrauterine torch infection but without intrauterine infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=34
  1997. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:responsive to vitamin b12 therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=34
  1998. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:retinal arteriolar tortuosity develops in adolescence and is progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=34
  1999. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:risk of sudden death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=34
  2000. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=34
  2001. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also an adult-onset form (213600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=34
  2002. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) | rel=r_associated | relid=0 | w=34
  2003. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=34
  2004. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also autosomal form, 146450, and another x-linked form, 300633
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=34
  2005. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also autosomal recessive familial mediterranean fever (fmf, 249100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=34
  2006. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also benign familial infantile convulsions (bfic1, 601764)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=34
  2007. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=34
  2008. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also mmab (251110)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=34
  2009. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also optic atrophy 1 (165500), an allelic disorder without deafness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=34
  2010. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=34
  2011. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also the non-herlitz type of jeb (226650), a less severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=34
  2012. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see also x-linked (310400) and autosomal dominant (160150) forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=34
  2013. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=34
  2014. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:seizures remit in later childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=34
  2015. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2016. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2017. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2018. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2019. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2020. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2021. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2022. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2023. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  2024. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:several forms of autosomal recessive spastic paraplegia (see 270800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=34
  2025. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:severe phenotype onset - neonate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=34
  2026. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:signs and symptoms depend on tumor location and activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=34
  2027. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:similar to infantile neuroaxonal dystrophy (inad, 256600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=34
  2028. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:skeletal and endocrine features have not been fully characterized in all of the patients reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=34
  2029. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:skeletal and facial features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=34
  2030. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:sleep disturbance or sleep apnea (obstructive, central, or mixed)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=34
  2031. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:sleepwalking triggered by alcohol, sleep deprivation, stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=34
  2032. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:slowly progressive disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=34
  2033. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some female carriers are more mildly affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=34
  2034. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=34
  2035. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some more severely affected patients may die in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=34
  2036. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients are asymptomatic and detected only by newborn screening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=34
  2037. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | rel=r_associated | relid=0 | w=34
  2038. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=34
  2039. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have a severe phenotype with neurologic manifestations beginning at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=34
  2040. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have no manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=34
  2041. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have persistence of seizures to adulthood, but then show remission
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=34
  2042. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have resolution of symptoms in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=34
  2043. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients have subclinical exocrine pancreatic deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=34
  2044. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients may have normal development until onset of seizures in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=34
  2045. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients may live to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=34
  2046. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients require insulin for treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=34
  2047. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients show improvement in muscle power in the teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=34
  2048. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:some patients with advanced loss of vision have normal eog
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=34
  2049. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:sparing of some nails in some individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=34
  2050. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:spontaneously resolves by 5 to 6 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=34
  2051. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:stillborn or lethal in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=34
  2052. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:stokes-adams syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stokes-adams syndrome | rel=r_associated | relid=0 | w=34
  2053. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:subtype of migraine with aura
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=34
  2054. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:sudden death due to cardiomyopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=34
  2055. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:sudden death in affected males occurs in teens
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=34
  2056. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=34
  2057. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptoms may decrease after age 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=34
  2058. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptoms progress with worsening myopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=34
  2059. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptoms relieved by serotonin antagonist (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=34
  2060. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptoms show insidious onset in the late first through third decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=34
  2061. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:symptoms worsen with fatigue and exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=34
  2062. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) | rel=r_associated | relid=0 | w=34
  2063. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:tendency to lighter pigmentation than unaffected relatives
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=34
  2064. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:there are several subtypes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=34
  2065. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three families described (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=34
  2066. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three families have been reported (as of december 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=34
  2067. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three forms of cjd: acquired (including variant), sporadic, and inherited
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=34
  2068. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three patients have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=34
  2069. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three unrelated families have been reported (last curated june 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=34
  2070. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | rel=r_associated | relid=0 | w=34
  2071. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=34
  2072. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:tremor is aggravated by emotional stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=34
  2073. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:tremor may be elicited by movement or postural maintenance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=34
  2074. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:tumors may show spontaneous regression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=34
  2075. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two affected sibs have been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
  2076. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) | rel=r_associated | relid=0 | w=34
  2077. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two families have been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=34
  2078. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=34
  2079. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  2080. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two families reported (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=34
  2081. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two japanese brothers have been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=34
  2082. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two loci control synthesis of c4, c4a (120810) and c4b (120820)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=34
  2083. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two patients have been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=34
  2084. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two sibs have been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  2085. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) | rel=r_associated | relid=0 | w=34
  2086. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=34
  2087. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
  2088. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  2089. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  2090. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=34
  2091. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated june 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=34
  2092. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated march 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=34
  2093. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=34
  2094. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:type 1 porencephaly is usually unilateral and results from destructive lesions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=34
  2095. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=34
  2096. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=34
  2097. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:type i onset at 8 to 15 months of age after normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=34
  2098. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:type ii is progressive and leads to shortened lifespan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=34
  2099. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=34
  2100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:usually adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually adult onset | rel=r_associated | relid=0 | w=34
  2101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:usually clinically asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=34
  2102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:usually fatal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually fatal | rel=r_associated | relid=0 | w=34
  2103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:usually favorable response to treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=34
  2104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=34
  2105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age at onset (8 to 62 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=34
  2106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 15 to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=34
  2107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range first to fourth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=34
  2108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range infancy to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=34
  2109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age at onset, first to second decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=34
  2110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age of onset (range 1 to 30 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=34
  2111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age of onset (range 4 months to 45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=34
  2112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable age of onset, from 6 to 50 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=34
  2113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable clinical presentation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=34
  2114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=34
  2115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable expressivity within a family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=34
  2116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable penetrance of these features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=34
  2117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable presentation and manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=34
  2118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable response to steroid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=34
  2119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variable severity, ranging from 'typical' to 'severe' disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=34
  2120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=34
  2121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:vasculitic symptoms are associated with cold exposure (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=34
  2122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:very rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:very rare | rel=r_associated | relid=0 | w=34
  2123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:vhl type 2a - hemangioblastoma and pheochromocytoma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=34
  2124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:visual and hearing loss are slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=34
  2125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:waddling gait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:waddling gait | rel=r_associated | relid=0 | w=34
  2126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:wasting of hands often occurs first
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=34
  2127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:wide phenotypic variation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=34
  2128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:women affected more than men (3:2)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=34
  2129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:worldwide frequency of 1 in 100,000 infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=34
  2130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:worldwide prevalence of 1/100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=34
  2131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 34 / 0.791 -> en:x-linked recessive cytochrome b-negative cgd
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=34
  2132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:'variant' form of x-linked cgd retains residual cytochrome b(-245)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=32
  2133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:10% due to paternal deletion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=32
  2134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:20-40% patients are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=32
  2135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:21% of hereditary wilms tumor are bilateral
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=32
  2136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:3 reported cases, 1 pedigree of affected sibs, neither parent affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=32
  2137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:40 patients in 16 dominant kindreds reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  2138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:5-10% of all wilms tumor are bilateral
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=32
  2139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:50% of cases are de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=32
  2140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:50% of females have learning disability or mild mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=32
  2141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:7 unrelated patients have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=32
  2142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:70% due to de novo maternal deletion of 15q11.2-q13
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=32
  2143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:a subset of patients have a 'visual variant'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=32
  2144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:about 50% of patients become wheelchair-bound at an average age of 37 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=32
  2145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:about half of patients report vestibular symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=32
  2146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:acute attacks lasting 24-48 hours
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=32
  2147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:additional features are variably present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=32
  2148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult form is asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=32
  2149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (20 to 40 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=32
  2150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (25-45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=32
  2151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (before 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=32
  2152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (mean of 30 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=32
  2153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (range 12 to 59 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=32
  2154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset (range 14 to 70 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=32
  2155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:adult onset form usually presents with psychiatric manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=32
  2156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:affected infants often die in utero or in the postnatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=32
  2157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age at first pregnancy:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=32
  2158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age at menarche:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=32
  2159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age at onset ranges from 16 years to 65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=32
  2160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age of onset 28 to 70 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=32
  2161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age of onset 6-10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 6-10 years | rel=r_associated | relid=0 | w=32
  2162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age of onset ranges from 1 to 47 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=32
  2163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:age of onset within the first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=32
  2164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:all reported cases have occurred sporadically
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=32
  2165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) | rel=r_associated | relid=0 | w=32
  2166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to androgen insensitivity syndrome (ais, 300068)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=32
  2167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=32
  2168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to brachydactyly type b (113000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=32
  2169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=32
  2170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to margarita island type of ectodermal dysplasia (225060)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=32
  2171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to opitz-kaveggia syndrome (305450)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=32
  2172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=32
  2173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorder to schindler disease (609241)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=32
  2174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=32
  2175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to birt-hogg-dube syndrome (135150)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=32
  2176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=32
  2177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | rel=r_associated | relid=0 | w=32
  2178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to neurofibromatosis-1 (nf1, 162200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=32
  2179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to pachyonychia congenita jackson-lawler type (167210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=32
  2180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=32
  2181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=32
  2182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=32
  2183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:alpha thalassemia-mental retardation syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alpha thalassemia-mental retardation syndrome | rel=r_associated | relid=0 | w=32
  2184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:anemia may show favorable response to alpha-interferon treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=32
  2185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:antibodies can develop after pregnancy or transfusion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=32
  2186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:aortic dissection may occur in second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=32
  2187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:apparent in newborn at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=32
  2188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:approximately 35% of patients die during the first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=32
  2189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:approximately 50db loss in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=32
  2190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:arrhythmias detected prenatally (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=32
  2191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:associated with advanced paternal age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=32
  2192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) | rel=r_associated | relid=0 | w=32
  2193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=32
  2194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:associated with tuberous sclerosis (191100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=32
  2195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:at birth, there is generalized red scaly skin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=32
  2196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:attacks more common in women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=32
  2197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=32
  2198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | rel=r_associated | relid=0 | w=32
  2199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:autonomic symptoms occur with headaches
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=32
  2200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:autosomal dominant inheritance is more common
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant inheritance is more common | rel=r_associated | relid=0 | w=32
  2201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:autosomal recessive inheritance has been reported in 1 case
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=32
  2202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:autosomal recessive inheritance with earlier onset has been suggested
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=32
  2203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:average age at onset 18 years (range 15 to 25 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=32
  2204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:average age at onset 19 years (range 5 to 38)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=32
  2205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:average age at onset 66 years although earlier onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=32
  2206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:average age of onset 6 months (range birth - 2 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=32
  2207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:based on 1 family (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=32
  2208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:based on 4 patients in one family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=32
  2209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | rel=r_associated | relid=0 | w=32
  2210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:based on one patient (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=32
  2211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=32
  2212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:can be categorized into 3 groups
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=32
  2213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:capillary malformation are apparent at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=32
  2214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:carrier females are unaffected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=32
  2215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=32
  2216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:carrier rate of 1 in 11 among old order amish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=32
  2217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:central apneic episodes may be fatal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=32
  2218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:characterized by calf weakness at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=32
  2219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:chelation therapy can result in clinical improvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=32
  2220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:childhood onset (average 4 to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=32
  2221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:childhood or adolescent onset, protracted, with myopathy and neuropathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=32
  2222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:chromosomal hypersensitivity to ionizing radiation and alkylating agents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=32
  2223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | rel=r_associated | relid=0 | w=32
  2224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:clinical and pathologic features of both demyelinating and axonal cmt
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=32
  2225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:clinical variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical variability | rel=r_associated | relid=0 | w=32
  2226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=32
  2227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=32
  2228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:complete absence of melanin synthesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=32
  2229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:comprises several subtypes, including
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=32
  2230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:connatal form (type ii), most severe with death in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=32
  2231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=32
  2232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=32
  2233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death between 2 years of age and young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=32
  2234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=32
  2235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death from pneumonia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=32
  2236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death in early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in early infancy | rel=r_associated | relid=0 | w=32
  2237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death in infancy, usually from sepsis, dehydration, or acidosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=32
  2238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death in the first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=32
  2239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death usually by 1 year of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=32
  2240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death usually due to respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=32
  2241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death usually within first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=32
  2242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:death within 12 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within 12 months | rel=r_associated | relid=0 | w=32
  2243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:decreased bilirubin concentration with phenobarbital administration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=32
  2244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:diagnosis within the first 3 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=32
  2245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=32
  2246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:distinct disorder from myasthenia gravis (mg, 254200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=32
  2247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:distinct disorder from reduced zinc in breast milk (608118)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=32
  2248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:does not result in renal failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=32
  2249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:due to lack of epidermal ridging, patients lack fingerprints
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=32
  2250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:dyskinesia may be precipitated by alcohol, stress, or fatigue
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=32
  2251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:dysmorphic facial features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=32
  2252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:dysmorphic facial features may not be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=32
  2253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:early death (mean age 13 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=32
  2254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:early death occurs in affected infants (days to months after disease onset)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=32
  2255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=32
  2256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:early onset (9-48 years, but reported up to 68 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=32
  2257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:early onset (average 1 year)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=32
  2258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:enterocolitis tends to remit with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=32
  2259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:episodes are triggered by cold exposure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=32
  2260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:episodes triggered by fasting, illness, fever
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=32
  2261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:estimated mutation carrier rate of 1 in 350
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=32
  2262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:facial dysmorphic features are mild
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=32
  2263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:familial form - constitutional deficiency of vwf-cleaving protease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=32
  2264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=32
  2265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:favorable response to ephedrine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=32
  2266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:favorable response to spironolactone
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=32
  2267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:febrile seizures show onset between 6 months and 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=32
  2268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:feeding difficulties in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=32
  2269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:feet are unaffected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=32
  2270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=32
  2271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=32
  2272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:fever, muscle cramping, and poor feeding remit by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=32
  2273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:figure associated with report or note:-:point in time:^patient:-
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=32
  2274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:findings in muscle biopsy may be variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=32
  2275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:five unrelated patients have been reported (nov. 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=32
  2276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=32
  2277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:for similar autosomal dominant form, see 162350
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=32
  2278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:four major groups: early infantile, late infantile, juvenile, adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=32
  2279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:four patients from 3 families have been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
  2280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | rel=r_associated | relid=0 | w=32
  2281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:four unrelated patients have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:fracture frequency constant through childhood, decreases after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=32
  2283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:fractures decrease after puberty but increase after menopause
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=32
  2284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:frequency and severity of seizures tends to decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=32
  2285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:frequency increases with advancing age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=32
  2286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:frequently fatal within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=32
  2287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | rel=r_associated | relid=0 | w=32
  2288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:gastrointestinal anomalies are not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=32
  2289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:gei (gene-environment interaction) - association of cardiac events with drug administration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=32
  2290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:generalized fatigue
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=32
  2291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic anticipation occurs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=32
  2292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 125800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=32
  2293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 266900 for summary)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=32
  2294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 605407)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=32
  2295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see bscl2, 269700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=32
  2296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cmt2a 118210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=32
  2297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see ebn2 121201, ebn3 608217)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=32
  2298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see gefs+, 604233)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=32
  2299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see pfm1, 168500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=32
  2300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see rmd1, 600332)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=32
  2301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see sca1, 164000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=32
  2302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=32
  2303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., atfb3, 607554)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=32
  2304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=32
  2305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see mgr1 (157300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=32
  2306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see ppnad2 (610475)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=32
  2307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=32
  2308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=32
  2309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:germline or somatic mutations may cause the disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=32
  2310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:gms is goniodysgenesis, mental deficiency, and short stature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=32
  2311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:good response to l-dopa initially
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=32
  2312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:good response to medication
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to medication | rel=r_associated | relid=0 | w=32
  2313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:gradual progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gradual progression | rel=r_associated | relid=0 | w=32
  2314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:great variation in extent of hypertrophy in mutation-positive individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=32
  2315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:group c is relatively benign
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=32
  2316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:hair regrowth may occur later in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=32
  2317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:haploinsufficiency of rps14 (130620)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=32
  2318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:hearing loss affects all frequencies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=32
  2319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:hearing loss and ocular findings are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=32
  2320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:hearing loss typically begins between 3 and 4 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=32
  2321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=32
  2322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:heterozygotes have half-normal levels of apob-containing lipoproteins
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=32
  2323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=32
  2324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:high frequency in the french-canadian population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=32
  2325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:high frequency of de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=32
  2326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:high incidence in iraqis and sephardic jewish individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=32
  2327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:high incidence of diabetes mellitus noted in opll patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=32
  2328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:high recurrence rate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=32
  2329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:highly variable expression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable expression | rel=r_associated | relid=0 | w=32
  2330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:highly variable frequency and severity of attacks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=32
  2331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:highly variable severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable severity | rel=r_associated | relid=0 | w=32
  2332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:immunodeficiency is progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=32
  2333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 100,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=32
  2334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=32
  2335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 25,000 livebirths
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=32
  2336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 250,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  2337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 57,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=32
  2338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=32
  2339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incidence, 1 in 650-1000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=32
  2340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:incomplete, but high, penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=32
  2341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased abortuses of homozygous or compound heterozygous fetuses
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=32
  2342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased frequency among japanese and chinese
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=32
  2343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) | rel=r_associated | relid=0 | w=32
  2344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | rel=r_associated | relid=0 | w=32
  2345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased prevalence in persons of ashkenazi jewish descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=32
  2346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:increased rate of miscarriage in affected individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=32
  2347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:infantile form accounts for 90% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=32
  2348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:infantile, late-infantile, juvenile, and adult onset have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=32
  2349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:infections may precipitate ketotic episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=32
  2350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:initially normal for first 6-18 months which is then followed by withdrawal and regression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=32
  2351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:intermediate levels of factor x in mildly symptomatic heterozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=32
  2352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:intrafamilial variability in severity of hypothyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=32
  2353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:itch, pain, and body malodor often
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=32
  2354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:joint dislocations become less frequent with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=32
  2355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:juvenile form has onset between 4 and 19 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=32
  2356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:juvenile rigid early-onset form more often paternally inherited
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=32
  2357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:late-adult onset (usually after age 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=32
  2358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:later childhood onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=32
  2359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:later onset (late childhood to young adult) has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=32
  2360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:later onset can also occur (up to age 17 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=32
  2361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:later onset is associated with slower progression and lesser severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=32
  2362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:length of attack, 3 to 7 days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=32
  2363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:length of calorie fast:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=32
  2364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:lesions appear in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=32
  2365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:lesions occur mainly on the pinnae of the ears or on the face
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=32
  2366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:less severe phenotype in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=32
  2367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=32
  2368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:lethal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lethal | rel=r_associated | relid=0 | w=32
  2369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=32
  2370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:liver symptoms improve with age and disappear after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=32
  2371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:loss of ambulation within 10 years of onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=32
  2372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:madelung deformity more frequent and more severe in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=32
  2373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:major cause of death is heart failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=32
  2374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:majority are isolated cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=32
  2375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:majority die in neonatal period secondary to respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=32
  2376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:majority of patients are stillborn or die before 5 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=32
  2377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:male infertility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male infertility | rel=r_associated | relid=0 | w=32
  2378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:male to female ratio 4:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=32
  2379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:male-limited trait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male-limited trait | rel=r_associated | relid=0 | w=32
  2380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:males are more commonly affected than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=32
  2381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:males are most severely affected, but females can also be affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=32
  2382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | rel=r_associated | relid=0 | w=32
  2383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:manifestations continue to appear until 5th decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=32
  2384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:manifests in infancy (including neonatal lethal) or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=32
  2385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:many cases due to de novo mutation or chromosome aberration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=32
  2386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:marked clinical heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=32
  2387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:marked favorable response to l-dopa treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=32
  2388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:may be present in asymptomatic adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=32
  2389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:may fade with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may fade with age | rel=r_associated | relid=0 | w=32
  2390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=32
  2391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at diagnosis is 38 years(range 11-63 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=32
  2392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at onset 15.2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=32
  2393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at onset 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=32
  2394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=32
  2395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | rel=r_associated | relid=0 | w=32
  2396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age at termination 3 to 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=32
  2397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean age of onset 35-40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=32
  2398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mean duration of symptoms 4.2 plus or minus 2.4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=32
  2399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980))
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) | rel=r_associated | relid=0 | w=32
  2400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:median age at onset 23 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=32
  2401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=32
  2402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:median survival 5.7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=32
  2403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=32
  2404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mesomelia becomes more evident with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=32
  2405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mild disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild disorder | rel=r_associated | relid=0 | w=32
  2406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mild expression in heterozygous carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=32
  2407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mild phenotype onset - 11-18 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=32
  2408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:more common in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in males | rel=r_associated | relid=0 | w=32
  2409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:more commonly observed in women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=32
  2410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:more frequent in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more frequent in females | rel=r_associated | relid=0 | w=32
  2411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most affected infants die shortly after birth from respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=32
  2412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=32
  2413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most common form of childhood idiopathic epilepsy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=32
  2414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most have resolution of symptoms between 6 and 12 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=32
  2415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most patients are clinically asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=32
  2416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most patients are clinically asymptomatic and show normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=32
  2417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most patients are from finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=32
  2418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound in the second to fourth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=32
  2419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most patients do not learn to sit or walk
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=32
  2420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:most remit by 2 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=32
  2421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:motor impairment more significant than sensory impairment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=32
  2422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:multiple lesions in familial cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=32
  2423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=32
  2424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:mutation carriers may show toxicity to 5-fluorouracil (5fu)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=32
  2425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:myasthenic syndromes, congenital, slow channel
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:myasthenic syndromes, congenital, slow channel | rel=r_associated | relid=0 | w=32
  2426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:natural aversion to carbohydrates
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=32
  2427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:neonatal onset of nephrotic syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=32
  2428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:neurologic features occur later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=32
  2429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:neurologic symptoms may develop decades later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=32
  2430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:no preceding skin inflammatory stage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=32
  2431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:non-tender
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:non-tender | rel=r_associated | relid=0 | w=32
  2432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) | rel=r_associated | relid=0 | w=32
  2433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:nonsyndromic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=32
  2434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:nonsyndromic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=32
  2435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:normal alleles contain 15 to 50 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=32
  2436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:normal development between episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=32
  2437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:normal intelligence in majority
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=32
  2438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=32
  2439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:occurs during pregnancy, most often in the third trimester
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=32
  2440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:occurs in 2-5 per 10,000 individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=32
  2441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | rel=r_associated | relid=0 | w=32
  2442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:often associated with syringomyelia (186700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=32
  2443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=32
  2444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one consanguineous family has been reported (last curated december 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=32
  2445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
  2446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated january 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=32
  2447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family of french-canadian origin has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
  2449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family of italian-american descent has been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=32
  2450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=32
  2451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family with 2 affected fetuses has been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=32
  2452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family with 6 probands described (as of september 2000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=32
  2453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=32
  2454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32
  2455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=32
  2456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one japanese patient has been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
  2457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one large 3-generation irish family has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=32
  2458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one large family has been reported (last curated june 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=32
  2459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one of the 2 most common forms of oca in the world along with oca1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=32
  2460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (as of april 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=32
  2461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (as of curation date may, 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=32
  2462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=32
  2464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:one third of patients represent new mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=32
  2465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset 23 to 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=32
  2466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset 3 months of age up to 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=32
  2467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset 5 to 10 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=32
  2468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset 70-90 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=32
  2469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset at birth or in first days or life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=32
  2470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset between 6 and 14 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=32
  2471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset between 7 and 27 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=32
  2472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset between 9 and 16 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=32
  2473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset birth to early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=32
  2474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset first to seventh decade with 30 to 40 year mode
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=32
  2475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in 1st to 3rd decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=32
  2476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in adolescence or adulthood has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=32
  2477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in childhood (range 1 to 12 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=32
  2478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=32
  2479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in first 2 decades (range 6 to 15 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=32
  2480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in first 6 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=32
  2481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in first decade (e.g. 180380.0028)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=32
  2482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in fourth to fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=32
  2483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in infancy and early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=32
  2484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in infancy and third decade had been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=32
  2485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in infancy or at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=32
  2486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in late-childhood to early adulthood (12 to 20 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=32
  2487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in neonatal period or early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=32
  2488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in second decade, but sometimes earlier
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=32
  2489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in second to fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=32
  2490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset in utero or in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=32
  2491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of alopecia in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=32
  2492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of ataxia in the fifties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=32
  2493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of cardiac symptoms in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=32
  2494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of cough in early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=32
  2495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of disease in fourth or fifth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=32
  2496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=32
  2497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of hand involvement at 14 to 60 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=32
  2498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of linear striations between 5 months and 6 years (only in affected females)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=32
  2499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of malignancy can occur throughout life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=32
  2500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of myoclonus later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=32
  2501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of other symptoms in adolescence or early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=32
  2502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of seizures before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=32
  2503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of symptoms 2-4 weeks of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=32
  2504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in childhood with stiff, painful joints
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=32
  2505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of thrombocytopenia in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=32
  2506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset of visual loss in the first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=32
  2507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset ranges from birth to age 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=32
  2508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=32
  2509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=32
  2510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually in first or second decade (mean 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=32
  2511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=32
  2512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually in late adolescence or early adulthood (range 15 to 45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=32
  2513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset usually in late infancy or childhood (1 to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=32
  2514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:onset within first 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=32
  2515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births | rel=r_associated | relid=0 | w=32
  2516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=32
  2517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:overlap with tourette syndrome (137580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=32
  2518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:part of 'dent disease complex'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=32
  2519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients are susceptible to sepsis and dehydration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=32
  2520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients do not exhibit ophthalmoplegia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=32
  2521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients do not have clinical hypothyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=32
  2522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients may become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=32
  2523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients may present with either renal or neurologic symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=32
  2524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients need lifelong total parenteral nutrition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=32
  2525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=32
  2526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients remain ambulatory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=32
  2527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients walk on tips of toes with dorsal foot deviated laterally
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=32
  2528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:patients with contiguous gene deletion of 8q24 have more severe features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=32
  2529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=32
  2530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:pectus carinatum present in obligate carrier mothers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=32
  2531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:penetrance of disease is complete between 30 and 40 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=32
  2532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:persistent bleeding after injury or surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=32
  2533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=32
  2534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with currarino syndrome (176450)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=32
  2535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with denys-drash syndrome (194080).
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=32
  2536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=32
  2537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with revesz syndrome (268130)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=32
  2538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=32
  2539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:pigmentary abnormalities apparent at birth or in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=32
  2540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:polyhydramnios
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=32
  2541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:poor response to acetylcholinesterase inhibitors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=32
  2542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:poor response to l-dopa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=32
  2543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:possible autosomal dominant (165199) and autosomal recessive (258650) forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=32
  2544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:possible x-linked recessive inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=32
  2545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:precipitating factors include viral illness and pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=32
  2546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prenatal or perinatal lethality in hemizygous males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=32
  2547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:presence of additional features is variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=32
  2548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:presentation in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=32
  2549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:presentation in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=32
  2550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:presenting symptoms in the upper body
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=32
  2551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning | rel=r_associated | relid=0 | w=32
  2552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence 1 in 8000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=32
  2553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence estimated at 1 in 86,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=32
  2554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 10,000 caucasians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=32
  2555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 3,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=32
  2556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 40,000 to 1 in 80,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=32
  2557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 6,000 to 1 in 10,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=32
  2558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of essential tremor ranges from 0.4 to 6% in the general population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=32
  2559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=32
  2560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:progression to profound hearing loss affecting all frequencies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=32
  2561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:protein c deficiency is found in 3-4% of patients with venous thromboembolism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=32
  2562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | rel=r_associated | relid=0 | w=32
  2563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:radioresistant dna synthesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=32
  2564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rapid disease progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=32
  2565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rapid progression in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=32
  2566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=32
  2567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rare adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare adult onset | rel=r_associated | relid=0 | w=32
  2568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rare survival to teens
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=32
  2569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:recurrence is possible
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=32
  2570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:recurrence of symptoms after cholecystectomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=32
  2571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:recurrent acute episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=32
  2572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:recurrent bacterial infections beginning in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=32
  2573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reduced life expectancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=32
  2574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reduced penetrance (approximately 54%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=32
  2575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reference lab test method:type:time reported elsewhere:reference lab test:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=32
  2576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reference lab test name:type:time reported elsewhere:reference lab test:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=32
  2577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:regression in infancy (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=32
  2578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reported in 1 family (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=32
  2579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:reported in 2 sibs (february 1991)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=32
  2580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:results in severe motor disability and loss of independent ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=32
  2581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:rickets and premature primary tooth loss occur in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=32
  2582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:scalp hair quality improves during pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=32
  2583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see (277600) for a phenotypically similar autosomal recessive form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=32
  2584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see 255160 for an autosomal recessive form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=32
  2585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see 609888 for a discussion on leprosy susceptibility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=32
  2586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant robinow syndrome (180700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=32
  2587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=32
  2588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also distal hmn2a (158590)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=32
  2589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also dyggve-melchior-clausen disease (223800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=32
  2590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. | rel=r_associated | relid=0 | w=32
  2591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also perinatal lethal variant (608013), which is more severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=32
  2592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also pfm3 on chromosome 4q21-q23 (609566)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=32
  2593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also pgl1 (168000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=32
  2594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=32
  2595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:see also x-linked leigh syndrome (312170)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=32
  2596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:seizures are usually refractory at first
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=32
  2597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:seizures tend to remit later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=32
  2598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sensorineural hearing loss may be presenting feature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=32
  2599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:serum triglycerides decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=32
  2600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2602. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2603. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2604. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2605. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2606. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2607. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2608. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2609. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:seven patients reported (as of march 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=32
  2610. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:severe involvement of legs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=32
  2611. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:severe neurodegenerative course resulting in a comatose state or death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=32
  2612. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:significant phenotypic variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=32
  2613. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:single umbilical artery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=32
  2614. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:skin lesions tend to occur on distal extremities or at elbows and knees
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=32
  2615. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=32
  2616. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some heterozygous carriers may have mild manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=32
  2617. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some mutation carriers have mild features of frontonasal dysplasia (613451)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=32
  2618. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients develop ophthalmoplegia in middle age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=32
  2619. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients do not reach end-stage renal failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=32
  2620. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=32
  2621. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients have later onset and more variable phenotype (mngie)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=32
  2622. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients may be clinically asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=32
  2623. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some patients present with spasticity, whereas others present with cerebellar ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=32
  2624. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:some phenotypic overlap with rett syndrome (312750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=32
  2625. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=32
  2626. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:spontaneous reversal of gnrh deficiency may occur in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=32
  2627. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:spontaneous tumor regression may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=32
  2628. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sporadic cases often single lesions versus multiple lesions in familial cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=32
  2629. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:stillborn or infantile death usual in prenatal form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=32
  2630. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sudden cardiac death frequent in affected families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=32
  2631. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sudden death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death | rel=r_associated | relid=0 | w=32
  2632. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sudden death in affected females occurs in the forties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=32
  2633. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:sudden death secondary to impaction of medulla oblongata
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=32
  2634. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptomatic if > 200 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=32
  2635. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms are responsive to cobalamin treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=32
  2636. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms may be aggravated by acute illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=32
  2637. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | rel=r_associated | relid=0 | w=32
  2638. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=32
  2639. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms remain focal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=32
  2640. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:symptoms usually appear in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=32
  2641. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=32
  2642. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=32
  2643. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | rel=r_associated | relid=0 | w=32
  2644. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:this patient died at age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=32
  2645. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:three major clinical forms are apparent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=32
  2646. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:three patients from 1 mexican family has been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=32
  2647. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:three unrelated families have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
  2648. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:three unrelated patients have been reported (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=32
  2649. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:three unrelated turkish families have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated turkish families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
  2650. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:tremors develop after seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=32
  2651. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two families have been reported (as of may 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=32
  2652. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two families of canadian origin have been reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=32
  2653. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two families reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
  2654. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two japanese patients have been reported (last curated march 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=32
  2655. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=32
  2656. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two of 3 patients became wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=32
  2657. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2658. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two patients have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=32
  2659. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two sibs have been reported (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=32
  2660. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two unrelated chinese families have been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
  2661. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
  2662. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=32
  2663. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2664. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2665. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type 2a is characterized by deficiency of high molecular weight monomers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=32
  2666. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | rel=r_associated | relid=0 | w=32
  2667. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type 2n shows autosomal recessive inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=32
  2668. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type 3: craniosynostosis, early demise, sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=32
  2669. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) | rel=r_associated | relid=0 | w=32
  2670. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:type iia tends to have more severe phenotype with earlier onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=32
  2671. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=32
  2672. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:ultrasound detection in second trimester of pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=32
  2673. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:uncommon and rare features seen in the most severely affected patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=32
  2674. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:usually a sporadic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=32
  2675. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=32
  2676. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:usually fatal by age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=32
  2677. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:usually sporadic disorder resulting from de novo 22q11.2 deletion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=32
  2678. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:usually sporadic, but 1-2% of cases are familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=32
  2679. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual | rel=r_associated | relid=0 | w=32
  2680. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range 6 to 54 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=32
  2681. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range childhood to late adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=32
  2682. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable age at onset (usually 20 to 30 years of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=32
  2683. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable age at onset, early childhood to adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=32
  2684. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable age at onset, ranging from childhood to late adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=32
  2685. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable clinical presentation ranging from acute onset to normal adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=32
  2686. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=32
  2687. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable neuroradiologic findings
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=32
  2688. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable phenotype (myotonia may or may not be present)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=32
  2689. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable phenotype, some patients have very mild symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=32
  2690. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable presentation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable presentation | rel=r_associated | relid=0 | w=32
  2691. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable progression rate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable progression rate | rel=r_associated | relid=0 | w=32
  2692. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable response to vitamin b12 therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=32
  2693. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable severity (mild symptoms to severe handicap)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=32
  2694. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=32
  2695. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:variable severity, intrafamilial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=32
  2696. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:very variable phenotype, with some patients having many features and others only a few
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=32
  2697. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:vhl type 1 - renal carcinoma and hemangioblastoma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=32
  2698. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:waddling gait, often presenting sign in second year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=32
  2699. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:wasting of the hands is the first and most prominent manifestation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=32
  2700. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:waxing and waning cardiomyopathy (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=32
  2701. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:wheelchair-bound average 12 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=32
  2702. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:wide spectrum of severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=32
  2703. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 32 / 0.744 -> en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=32
  2704. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:14% of patients survive with polyhydramnios
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=31
  2705. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:2:1 female preponderance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=31
  2706. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:23 patients from 2 kindreds reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=31
  2707. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:78% due to chromosome 14 maternal uniparental disomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=31
  2708. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:95% of cases are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=31
  2709. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:a second patient died at age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=31
  2710. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:abnormal transferrin pattern tends to improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=31
  2711. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:about 5% of patients have a history of febrile seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=31
  2712. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:about 50% of mutation carriers are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=31
  2713. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:absence of both inner and outer dynein arms of cilia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=31
  2714. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:acquired autoimmune disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=31
  2715. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset (mean 27 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=31
  2716. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset (mean age 37 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=31
  2717. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset (range 28 to 55 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=31
  2718. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset (range 40 to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=31
  2719. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset (thirties to forties)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=31
  2720. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset after puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=31
  2721. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset of gait abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=31
  2722. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset of muscle symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=31
  2723. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:adult onset of neurologic symptoms has been reported in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=31
  2724. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:affected males show onset of hematuria in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=31
  2725. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:affected, mild - 50-150 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=31
  2726. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:affects up to 10% of the population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=31
  2727. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age at diagnosis 36 +/- 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=31
  2728. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age at onset 3 to 23 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=31
  2729. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age of onset 23-59 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=31
  2730. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age of onset of distal lower limb weakness 8-16 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=31
  2731. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age-related clinical course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=31
  2732. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:age:time:pt:^patient:qn:estimated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=31
  2733. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:aggressive malignancies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=31
  2734. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:alcohol may alleviate symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=31
  2735. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:all de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=31
  2736. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:all reported mutations have occurred de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=31
  2737. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to autosomal dominant spg13 (605280)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=31
  2738. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=31
  2739. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to charcot-marie-tooth disease type 1a (118220)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=31
  2740. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | rel=r_associated | relid=0 | w=31
  2741. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to glut1 deficiency syndrome 1 (606777)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=31
  2742. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=31
  2743. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to ifap syndrome (308205)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=31
  2744. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to infantile neuroaxonal dystrophy (256600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=31
  2745. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=31
  2746. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=31
  2747. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to nf1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=31
  2748. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to northern epilepsy (610003)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=31
  2749. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to the ivic syndrome (147750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=31
  2750. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorder to usher syndrome type 1f (602083)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=31
  2751. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) | rel=r_associated | relid=0 | w=31
  2752. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=31
  2753. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to anterior segment mesenchymal dysgenesis (107250)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=31
  2754. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | rel=r_associated | relid=0 | w=31
  2755. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=31
  2756. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=31
  2757. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic to trp1 (190350)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=31
  2758. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:allelic with cone-rod dystrophy 10 (610283)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=31
  2759. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:alopecia may spontaneously regress, become chronic, or spread diffusely
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=31
  2760. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:ambulation is preserved
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=31
  2761. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:approximately 50% of patients have situs inversus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=31
  2762. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:approximately 70-80% of cases are de novo and sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=31
  2763. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:approximately half of the mutations are de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=31
  2764. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:associated with untreated phenylketonuria (261600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=31
  2765. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:attacks are not responsive to acetazolamide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=31
  2766. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:attacks tend to decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=31
  2767. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:aura may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:aura may occur | rel=r_associated | relid=0 | w=31
  2768. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:autosomal dominant with incomplete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=31
  2769. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:autosomal recessive cytochrome b-positive cgd, type i (233700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=31
  2770. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:autosomal recessive form (277720) has also been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=31
  2771. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been reported in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=31
  2772. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:average disease duration of 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=31
  2773. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:average onset 6 months (range 3-9)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=31
  2774. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on 1 reported family (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=31
  2775. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on 3 patients from 2 families (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=31
  2776. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=31
  2777. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on report of 1 family (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2778. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on report of 2 families (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2779. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:based on report of one polish roma patient (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=31
  2780. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:begins in hands or feet, later generalized
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=31
  2781. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:birth date:time stamp -- date and time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=31
  2782. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:blood glucose monitor with integrated voice synthesizer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=31
  2783. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:both homozygous and heterozygous edn3 mutations have been found
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=31
  2784. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:can be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=31
  2785. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=31
  2786. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:candidiasis is usually the first symptom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=31
  2787. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:carrier females may show mild mental retardation or learning disabilities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=31
  2788. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=31
  2789. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:carrier frequency 1:1,000 in french-canadians in quebec
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=31
  2790. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=31
  2791. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=31
  2792. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | rel=r_associated | relid=0 | w=31
  2793. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:classic severe form shows onset at 2 to 3 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=31
  2794. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=31
  2795. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:clinical overlap with charcot-marie-tooth disease type 2c (606071)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=31
  2796. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:color vision defects may not be part of the phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=31
  2797. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:colorectal cancer develops by fourth decade in untreated patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=31
  2798. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:common in south african whites
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:common in south african whites | rel=r_associated | relid=0 | w=31
  2799. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:complementation group c (variant mliii, 252605)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=31
  2800. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:complete penetrance but extreme variability of phenotypic expression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=31
  2801. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:conduction defect is progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=31
  2802. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:considered to be a severe form of gaucher disease type ii (230900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=31
  2803. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=31
  2804. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:corrected by bone marrow transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=31
  2805. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death at 10 to 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=31
  2806. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death by age 6-7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=31
  2807. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in early childhood | rel=r_associated | relid=0 | w=31
  2808. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death in first weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=31
  2809. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death in infancy without bone marrow transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=31
  2810. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death in utero (30%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=31
  2811. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death often occurs during metabolic/acidotic crisis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=31
  2812. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death often occurs in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=31
  2813. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death secondary to respiratory infection or failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=31
  2814. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death usually by age 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=31
  2815. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death usually by age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=31
  2816. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death usually in newborn period or infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=31
  2817. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death within 6 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=31
  2818. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:death within several months if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=31
  2819. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:deletion sizes range from 287kb to 4.4mb
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=31
  2820. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:described in individuals of roma gypsy origin (founder mutation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=31
  2821. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diabetes and anemia respond to high doses of thiamine supplementation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=31
  2822. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diagnosis in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=31
  2823. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diagnosis occurs between 23 and 33 weeks' gestation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=31
  2824. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diagnosis typically between age 10-20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=31
  2825. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=31
  2826. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:disease course depends on age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=31
  2827. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | rel=r_associated | relid=0 | w=31
  2828. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:disproportionately short limbs often noted at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=31
  2829. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:distinct disorder from galactosemia (230400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=31
  2830. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=31
  2831. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:distinct from pseudopili annulati (613241)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=31
  2832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diurnal fluctuation of neurologic symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=31
  2833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diurnal fluctuation of symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=31
  2834. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:diurnal fluctuation, more apparent in earlier years, later subsides
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=31
  2835. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:does not lead to hepatic failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=31
  2836. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:dystonia and seizures may persist after resolution of episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=31
  2837. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:earlier onset associated with faster progression and shorter life span
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=31
  2838. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:earlier onset associated with increased severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=31
  2839. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:earlier onset is rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=31
  2840. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death | rel=r_associated | relid=0 | w=31
  2841. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:early lethality
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early lethality | rel=r_associated | relid=0 | w=31
  2842. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=31
  2843. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:elevated body temperatures to 42 degrees celsius
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=31
  2844. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:environmental triggers - cold and wet exposure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=31
  2845. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:episodic decompensation is usually triggered by illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=31
  2846. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:erythema often triggered by sudden temperature change or emotional stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=31
  2847. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:estimated frequency 1/2000-1/4000 individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=31
  2848. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=31
  2849. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:evidence of systemic iron overload seen in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=31
  2850. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:excessive posttraumatic blood loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=31
  2851. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:extracutaneous manifestations are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=31
  2852. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:extreme clinical heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=31
  2853. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:fatal if renal transplant is not performed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=31
  2854. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:fatal outcome if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=31
  2855. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:fatal without lung transplant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=31
  2856. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to 3,4-diaminopyridine
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=31
  2857. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to anticholinesterase medication
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=31
  2858. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to clonazepam
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=31
  2859. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to immunotherapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=31
  2860. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to oral bile acid therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=31
  2861. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to oral creatine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=31
  2862. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favorable response to treatment with riboflavin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=31
  2863. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:favoring of fat and protein
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=31
  2864. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:features occur episodically
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features occur episodically | rel=r_associated | relid=0 | w=31
  2865. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:female carriers experience significant clinical manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=31
  2866. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:female carriers may have mild mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=31
  2867. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:female carriers may show some manifestations, such as hearing impairment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=31
  2868. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | rel=r_associated | relid=0 | w=31
  2869. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:female predominance (4:1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=31
  2870. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:fever of unknown origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=31
  2871. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:fifty percent of cases secondary to new mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=31
  2872. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:following fever in infancy, muscular weakness and poor growth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=31
  2873. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:foot dragging may appear in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=31
  2874. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:four patients from 3 unrelated families have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=31
  2875. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:four patients have been reported from pakistan (as of march 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=31
  2876. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:four types of cgd with basically identical clinical phenotypes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=31
  2877. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:frequency of infections decreases after 3 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=31
  2878. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=31
  2879. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (bor2, 610896)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=31
  2880. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 192600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=31
  2881. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 601680)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=31
  2882. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 608638)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=31
  2883. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 613254)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=31
  2884. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=31
  2885. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cftd1, 255310)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=31
  2886. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt4b1, 601382)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=31
  2887. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=31
  2888. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see hht1, 187300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=31
  2889. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see pfic1, 211600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=31
  2890. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see rmd, 606072)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=31
  2891. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity of waardenburg syndrome type 2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=31
  2892. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=31
  2893. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see aprm2 (610422)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=31
  2894. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see cild1 (244400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=31
  2895. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=31
  2896. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=31
  2897. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=31
  2898. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:hair tends to straighten by 2nd-3rd decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=31
  2899. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | rel=r_associated | relid=0 | w=31
  2900. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:haploinsufficiency of grn (138945)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=31
  2901. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:headaches last hours to days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=31
  2902. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:health data repository:id:pt:repository:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=31
  2903. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:hepatomegaly improves with age and disappears around puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=31
  2904. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=31
  2905. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:heterozygous carriers have an increased risk of metabolic dysfunction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=31
  2906. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=31
  2907. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:high early mortality rate if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=31
  2908. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:high frequency in hutterite population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=31
  2909. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:high frequency in japan (2 in 20,000, 0.1%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=31
  2910. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:high incidence among ashkenazi jews
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=31
  2911. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:highly variable clinical and immunologic phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=31
  2912. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:highly variable frequency and duration of episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=31
  2913. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=31
  2914. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=31
  2915. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome | rel=r_associated | relid=0 | w=31
  2916. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:homozygotes have earlier onset and a more severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=31
  2917. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:immunologic defects are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=31
  2918. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:in the absence of hydrops, death occurs within 3 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=31
  2919. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | rel=r_associated | relid=0 | w=31
  2920. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 50,000 to 1 in 100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=31
  2921. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incidence of 1 per 10,000 births in japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=31
  2922. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incidence of mh in anesthetized adults is 1 in 50,000-100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=31
  2923. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incomplete penetance of some features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=31
  2924. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance (range 13% to 77% by 50 years of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=31
  2925. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance in carrier females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=31
  2926. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased frequency in eastern pennsylvania amish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=31
  2927. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased frequency in the dariusleut hutterites (canada)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=31
  2928. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased frequency in the state of bahia, brazil
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=31
  2929. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased prevalence in individuals of jewish-iraqi origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=31
  2930. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased risk of developing early-onset aggressive cancers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=31
  2931. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased risk of early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=31
  2932. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased risk of miscarriage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=31
  2933. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:increased risk of myeloproliferative disorders in those with somatic mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=31
  2934. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:individuals do not develop erythrocytosis under hypoxic conditions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=31
  2935. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:individuals may accumulate more pigment in hair and eyes with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=31
  2936. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:infantile form usually leads to death by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=31
  2937. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:inflammatory arthritis may develop in 30% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=31
  2938. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:inheritance may be x-linked dominant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=31
  2939. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intermediate expression in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=31
  2940. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intermittent pyrexia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=31
  2941. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=31
  2942. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intrafamilial phenotypic variation may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=31
  2943. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intrafamilial variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=31
  2944. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intrafamilial variability in severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=31
  2945. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:intrafamilial variation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=31
  2946. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=31
  2947. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=31
  2948. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:leakage of fluid ('gusher') if the stapes is disturbed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=31
  2949. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:leigh syndrome, x-linked
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=31
  2950. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=31
  2951. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:longer disease duration than creutzfeldt-jakob disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=31
  2952. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:majority of cases are male
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=31
  2953. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:majority of cases are secondary to de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=31
  2954. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:majority of cases in japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=31
  2955. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:majority of patients are ambulatory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=31
  2956. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:males are more severely affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=31
  2957. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:males died in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=31
  2958. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:males mores severely affected than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=31
  2959. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) | rel=r_associated | relid=0 | w=31
  2960. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:marked clinical variability within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=31
  2961. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=31
  2962. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be due to imprinting defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=31
  2963. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be exacerbated by febrile illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=31
  2964. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=31
  2965. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be triggered by minor head trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=31
  2966. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:may be x-linked
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be x-linked | rel=r_associated | relid=0 | w=31
  2967. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age at diagnosis 16 years (range 6 to 22)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=31
  2968. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age at onset 10.6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=31
  2969. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age at onset of muscle disease is 42 years (range 24-61)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=31
  2970. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age of diagnosis of renal cell carcinoma is 46 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=31
  2971. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age of onset 21 years (range 14-35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=31
  2972. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age of onset 31 years (range 5-60)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=31
  2973. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mean age of onset 34 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=31
  2974. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:median age of onset of pancytopenia - 10 years (range 1-32 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=31
  2975. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mental retardation likely secondary to neonatal hypoxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=31
  2976. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:metabolic decompensation, episodic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=31
  2977. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mild symptoms may occur in teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=31
  2978. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:milder expression in female heterozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=31
  2979. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:miscellaneous
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:miscellaneous | rel=r_associated | relid=0 | w=31
  2980. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most (80 to 90%) of cases result from deletions of the sts gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=31
  2981. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most affected males die of respiratory failure within the first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=31
  2982. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=31
  2983. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most individuals are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=31
  2984. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=31
  2985. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound after 20 to 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=31
  2986. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most patients die in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=31
  2987. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | rel=r_associated | relid=0 | w=31
  2988. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most patients lose ambulation 2 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=31
  2989. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most severe type of von willebrand disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=31
  2990. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:most types show autosomal dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=31
  2991. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=31
  2992. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:multiple seizures daily at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=31
  2993. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | rel=r_associated | relid=0 | w=31
  2994. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=31
  2995. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=31
  2996. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:nail changes may be intermittent in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=31
  2997. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:near-normoglycemic remission for period of months to years without insulin treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=31
  2998. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:neonatal death secondary to pulmonary insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=31
  2999. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:neuropsychiatric manifestations are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=31
  3000. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:no abnormalities of skin, hair, teeth, or bones
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=31
  3001. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:no cardiac or immune defects in patients from the 2 reported families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=31
  3002. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:no clinical description given for 1 reported patient (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=31
  3003. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:no neurologic sequelae
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=31
  3004. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:no peripheral signs of hypothyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=31
  3005. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:non-progressive or very slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=31
  3006. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome | rel=r_associated | relid=0 | w=31
  3007. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:normal ability to tolerate heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=31
  3008. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:normal alleles have 4 to 18 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=31
  3009. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | rel=r_associated | relid=0 | w=31
  3010. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:normal growth and development after 1 year of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=31
  3011. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:number of episodes varies from 1 to many (up to 20)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=31
  3012. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=31
  3013. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:occurs in 1 in 50,000 newborn males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=31
  3014. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:occurs in about 1 in 10,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=31
  3015. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one 3-generation korean family reported (as of january 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 3-generation korean family reported (as of january 2011) | rel=r_associated | relid=0 | w=31
  3016. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani family has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=31
  3017. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=31
  3018. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one consanguineous turkish family has been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=31
  3019. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family from the old order amish has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  3020. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of 4/2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=31
  3021. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of curation date may, 2013) onset in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=31
  3022. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family has been reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=31
  3023. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family has been reported (last curated march 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=31
  3024. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family has been reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=31
  3025. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family of algerian descent has been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31
  3026. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family reported (last curated june 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=31
  3027. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one family with 2 patients has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 2 patients has been reported | rel=r_associated | relid=0 | w=31
  3028. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one large consanguineous arab muslim family has been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=31
  3029. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | rel=r_associated | relid=0 | w=31
  3030. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=31
  3031. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one large swedish family has been reported (as of april 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=31
  3032. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient died at 17 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=31
  3033. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of august 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=31
  3034. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of march 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=31
  3035. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31
  3036. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=31
  3037. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient with additional features of fanconi anemia has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=31
  3038. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one patient with normal cognition has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=31
  3039. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one turkish girl has been reported (last curated april 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31
  3040. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one-third of cases are familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=31
  3041. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:one-third of cases are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=31
  3042. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=31
  3043. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:only 13% develop hypertension at 18 years of age or less
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=31
  3044. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset - present at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=31
  3045. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset 13-15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=31
  3046. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset 6 to 18 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=31
  3047. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset after age 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=31
  3048. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset age 14-28 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=31
  3049. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset age 2 to 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=31
  3050. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset around adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset around adolescence | rel=r_associated | relid=0 | w=31
  3051. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset at 2 to 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=31
  3052. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset at 4 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=31
  3053. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset before age 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=31
  3054. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset before age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=31
  3055. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset before age 5 years in the absence of instruction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=31
  3056. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset between 7 and 18 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=31
  3057. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset between age 4 to 7 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=31
  3058. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset between ages 1 to 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=31
  3059. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset between ages 16-55
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=31
  3060. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in adolescence or young adulthood has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=31
  3061. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in adolescence to early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=31
  3062. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in childhood (mean 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=31
  3063. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in early childhood after initial normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=31
  3064. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in early infancy (2 to 3 months of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=31
  3065. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in early infancy, between 2 weeks and 3 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=31
  3066. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in first few years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=31
  3067. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in first month of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=31
  3068. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in infancy after weaning
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=31
  3069. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in infancy or early childhood (birth to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=31
  3070. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in late childhood or early teens
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=31
  3071. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in mid-adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=31
  3072. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in second decade or as young adult
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=31
  3073. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | rel=r_associated | relid=0 | w=31
  3074. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in second half of the first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=31
  3075. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=31
  3076. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in teens to late twenties (range 14 to 44 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=31
  3077. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in the first or second decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=31
  3078. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in third decade | rel=r_associated | relid=0 | w=31
  3079. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in utero or at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=31
  3080. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset in utero, infancy, or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=31
  3081. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset may be prelingual or in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=31
  3082. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset mid to late adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=31
  3083. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset occurs earlier in males than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=31
  3084. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of autoinflammation in infancy or first few years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=31
  3085. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of choroideremia in second to third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=31
  3086. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of disease after fourth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=31
  3087. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of essential tremor between 16 and 44 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=31
  3088. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of gastrointestinal tumors typically occurs in the second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=31
  3089. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of lipodystrophy in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=31
  3090. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of mild symptoms in first or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=31
  3091. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of neurologic features is variable, even within the same family (range early childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=31
  3092. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of renal dysfunction in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=31
  3093. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of symptoms 2-12 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=31
  3094. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset of symptoms in second or third decade (mean 25 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=31
  3095. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset ranges from 2 days to 7 months (most at 2-3 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=31
  3096. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset usually in early childhood (but can range from infancy to adolescence)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in early childhood (but can range from infancy to adolescence) | rel=r_associated | relid=0 | w=31
  3097. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset usually in second decade of life, although earlier and later onset have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=31
  3098. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset usually in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=31
  3099. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:onset within first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=31
  3100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | rel=r_associated | relid=0 | w=31
  3101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=31
  3102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:overlapping features of digeorge syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=31
  3103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=31
  3104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:part of 'dent disease complex' (see 300009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=31
  3105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:partial factor viii deficiency in heterozygous carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=31
  3106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:pathogenic cag repeat length is 51 to 78 triplets
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=31
  3107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients are born with normal head circumference
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=31
  3108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients do not have ectopia lentis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=31
  3109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=31
  3110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients have normal pituitary function
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=31
  3111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients may become wheelchair-bound after about 12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=31
  3112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients may or may not have dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=31
  3113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients may present with autoimmune features or primary immunodeficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=31
  3114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients often become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=31
  3115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients often nonambulatory by the mid-twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=31
  3116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients show sorbitol and glycerol intolerance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=31
  3117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:patients who acquire ability to walk may lose it
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=31
  3118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:penetrance is usually complete by age 65 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=31
  3119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:perinatal lethal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=31
  3120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:phenotype may be influenced by maternal alcohol consumption during pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=31
  3121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=31
  3122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:phenotypic variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=31
  3123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:phenotypically mild form of joubert syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=31
  3124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:physical features are apparent at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=31
  3125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:pigment does not develop with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=31
  3126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:plasma cholinesterase measurement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=31
  3127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:possible x-linked dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=31
  3128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:precipitated by fatigue or alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=31
  3129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:preponderance of affected females (80%) to males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=31
  3130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=31
  3131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:present at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:present at birth | rel=r_associated | relid=0 | w=31
  3132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:present in jewish yemenite population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=31
  3133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:presentation in childhood includes waddling gait and knee pain/stiffness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=31
  3134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:prevalence 1 in 1,250
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=31
  3135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 240 zuni indians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=31
  3136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 28,000 african-americans
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=31
  3137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:prevalent among the amish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=31
  3138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:prevalent in quebec
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=31
  3139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:progression in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=31
  3140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | rel=r_associated | relid=0 | w=31
  3141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:progressive neurologic deterioration if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=31
  3142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:progressive or slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=31
  3143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:progressive, with full manifestations at puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=31
  3144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:rapid disease progression from ages 40 to 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=31
  3145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:rapidly progressive deterioration (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=31
  3146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:recessive inheritance has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=31
  3147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=31
  3148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=31
  3149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:reduced penetrance (about 60%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=31
  3150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:relatives with multiple small congenital pigmented nevi
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=31
  3151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:retinal degeneration not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=31
  3152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also adult-onset stiff person syndrome (184850)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=31
  3153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant hypophosphatemic rickets (193100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=31
  3154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant lutheran-null phenotype (111150)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=31
  3155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant peoa1 (157640)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=31
  3156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also autosomal recessive form (255700), which is more common and more severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=31
  3157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also cmtx1 (302800) and cmt3x (302802)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=31
  3158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also gaucher disease type iii (231000), which is much less severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=31
  3159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=31
  3160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also peeling skin syndrome, acral type (609796)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=31
  3161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ia (php1a, 103580)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=31
  3162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also the autosomal recessive form (243000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=31
  3163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:see also x-linked edmd (310300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=31
  3164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:seizure onset after 3 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=31
  3165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:seizures are poorly responsive to treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=31
  3166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:seizures may remit with age (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=31
  3167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:seizures tend to occur upon awakening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=31
  3168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:severe course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe course | rel=r_associated | relid=0 | w=31
  3175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:severe incapacitation in 10-20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe incapacitation in 10-20 years | rel=r_associated | relid=0 | w=31
  3176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:severe infections in untreated patients with neutropenia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=31
  3177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:shields classification -
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:shields classification - | rel=r_associated | relid=0 | w=31
  3178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:six genetically confirmed patients have been reported (as of december 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=31
  3179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:six patients have been reported (5/18/2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=31
  3180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:skewed x-inactivation in carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=31
  3181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:skin lesions are primarily trauma-induced but occasionally appear spontaneously
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=31
  3182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:skin manifestation less frequently observed in cold climates
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=31
  3183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:skin peeling exacerbated by heat, friction, and humidity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=31
  3184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:slight increased risk for malignancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=31
  3185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:slight male predominance (3:2)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=31
  3186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some carrier females may manifest mild symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=31
  3187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=31
  3188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | rel=r_associated | relid=0 | w=31
  3189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients can attend special school
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=31
  3190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients do not develop renal failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=31
  3191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients do not develop stroke
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=31
  3192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients have cessation of seizures at a mean of 12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=31
  3193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients have later onset of the disorder as young adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=31
  3194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | rel=r_associated | relid=0 | w=31
  3195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients have only ocular involvement or only oral involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=31
  3196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=31
  3197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | rel=r_associated | relid=0 | w=31
  3198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients may have normal brain imaging
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=31
  3199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) | rel=r_associated | relid=0 | w=31
  3200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients may present with myopathic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=31
  3201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients never achieve sitting
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=31
  3202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients show a favorable response to sulfonylurea treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=31
  3203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some patients show no bleeding abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=31
  3204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:some pedigrees are consistent with autosomal dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=31
  3205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:spinal involvement improves with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=31
  3206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:spinal tumors are necessary for diagnosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=31
  3207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  3208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:surgical intervention is not always curative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=31
  3209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:survival to 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=31
  3210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:survival to 5-15 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=31
  3211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:symptoms improve during the summer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=31
  3212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=31
  3213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=31
  3214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:symptoms relieved by ovarian suppression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=31
  3215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:symptoms usually occur in adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=31
  3216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:syncope
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:syncope | rel=r_associated | relid=0 | w=31
  3217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:systemic iron overload due to ineffective erythropoiesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=31
  3218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:temperature instability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:temperature instability | rel=r_associated | relid=0 | w=31
  3219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:the most studied group is efe pygmies from ituri forest in northeast zaire
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=31
  3220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:thoracic abnormalities tend to improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=31
  3221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:three amish patients have been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=31
  3222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:three families have been reported (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=31
  3223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:three girls from 2 unrelated families have been reported (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=31
  3224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:three patients reported, one with a wdpcp mutation (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=31
  3225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  3226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=31
  3227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:treatment with dichloroacetate (dca) prolongs survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=31
  3228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:treatment with folinic acid offers some benefit for anemia and seizure control
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=31
  3229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=31
  3230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:treatment with serine and glycine replacement may alleviate features if started at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=31
  3231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:tumor suppressor gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tumor suppressor gene | rel=r_associated | relid=0 | w=31
  3232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:tumors usually develop between 40 and 60 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=31
  3233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=31
  3234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two loci described - eec1 (129900) and eec3 (604292)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=31
  3235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two patients from spain have been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
  3236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two patients required liver transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=31
  3237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two sibs died before 2 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=31
  3238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two sisters have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31
  3239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells | rel=r_associated | relid=0 | w=31
  3240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated consanguineous families have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  3241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=31
  3242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=31
  3243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=31
  3244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated individuals have been reported (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=31
  3245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31
  3246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type 3 - brandywine isolate opalescent dentin (125500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=31
  3247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type a characterized by progressive myoclonic epilepsy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=31
  3248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type b characterized by dementia, motor disturbances, and facial dyskinesia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=31
  3249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type i has most severe manifestations by age 4-5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=31
  3250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | rel=r_associated | relid=0 | w=31
  3251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:type iiib liver involvement only (15% of all cases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=31
  3252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=31
  3253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:uniparental disomy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=31
  3254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:unusual cabbage-like odor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=31
  3255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:unusual skill with jigsaw puzzle
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=31
  3256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:up to 60% of female mutation carriers develop lobular breast cancer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=31
  3257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:usually poor response to steroid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=31
  3258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset | rel=r_associated | relid=0 | w=31
  3259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range 2 to 48 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=31
  3260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range childhood to mid-sixties)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=31
  3261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age at onset of seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=31
  3262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age at onset, usually in first decade, but can occur later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=31
  3263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age of onset (6 to 35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=31
  3264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age of onset (range 1-40 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=31
  3265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable age of onset (range 13 to 67 years, median 48 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=31
  3266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable cataract phenotypes within a family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=31
  3267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable duration (minutes to hours)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=31
  3268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable facial dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=31
  3269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable heat tolerance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=31
  3270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable manifestation of features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=31
  3271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable number of nails involved
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=31
  3272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:variable presentation and evolution of symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=31
  3273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:worldwide incidence of 1 in 185,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=31
  3274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 31 / 0.721 -> en:z allele most common, only in caucasians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=31
  3275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:1 in 19,000 in japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=30
  3276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:13% of cases secondary to familial translocation (often maternally derived)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=30
  3277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=30
  3278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:25% due to mutations in ube3a (601623)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=30
  3279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) | rel=r_associated | relid=0 | w=30
  3280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:40% patients have associated abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=30
  3281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:98% of finnish cases due to one mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=30
  3282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:a subset of patients improve with thiamine
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=30
  3283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:absence of premature birth, low birthweight, and exposure to oxygen
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=30
  3284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:absence seizures usually remit by puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=30
  3285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=30
  3286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:acquired sporadic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=30
  3287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:acral hemorrhagic variant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=30
  3288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:acute attacks rarely occur before puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=30
  3289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:acute episodes decrease with age and disappear
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=30
  3290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset - 100-1,000 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=30
  3291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset (20 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=30
  3292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset (27 to 48 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=30
  3293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset (40 to 60 years old)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=30
  3294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset (mid-forties)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=30
  3295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=30
  3296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adult-onset in third to fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=30
  3297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:adults may lose ability to walk
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=30
  3298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:affected individuals remain ambulatory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=30
  3299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age at diagnosis 26 +/- 14 years for recessive disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=30
  3300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age at onset from 3 to 51 years (mean 19.2 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=30
  3301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age at onset ranges from childhood to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=30
  3302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age at onset ranges from first to sixth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=30
  3303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age of onset 30 to 60 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=30
  3304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age of onset 5 to 19 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=30
  3305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:age of onset 5 to 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=30
  3306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:all cases due to de novo mutation (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=30
  3307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=30
  3308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:all reported patients are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=30
  3309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=30
  3310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=30
  3311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=30
  3312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | rel=r_associated | relid=0 | w=30
  3313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | rel=r_associated | relid=0 | w=30
  3314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to early-onset sarcoidosis (609464)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=30
  3315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=30
  3316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=30
  3317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to parkinson disease-1 (park1, 168601)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=30
  3318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic disorder to primary erythermalgia (133020)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=30
  3319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to acrokeratosis verruciformis (101900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=30
  3320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | rel=r_associated | relid=0 | w=30
  3321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=30
  3322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to autosomal recessive pxe (264800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=30
  3323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to cowden disease (158350), which has a later age at onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=30
  3324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to deafness, autosomal recessive 12 (601386)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=30
  3325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to early-onset familial alzheimer disease (ad1, 104300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=30
  3326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | rel=r_associated | relid=0 | w=30
  3327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | rel=r_associated | relid=0 | w=30
  3328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=30
  3329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to marshall syndrome (154780)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=30
  3330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to noonan syndrome (163950)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=30
  3331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to osteopetrosis (259700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to osteopetrosis (259700) | rel=r_associated | relid=0 | w=30
  3332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=30
  3333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | rel=r_associated | relid=0 | w=30
  3334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic to usher syndrome, type id (601067)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=30
  3335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:allelic with retinitis pigmentosa 35 (610282)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=30
  3336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:amelioration with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:amelioration with age | rel=r_associated | relid=0 | w=30
  3337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:anemia does not respond to alpha-interferon treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=30
  3338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:approximately 40% of patients die within newborn period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=30
  3339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:associated with deletion at chromosome 2q37
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=30
  3340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:associated with increasing age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=30
  3341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=30
  3342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:asymptomatic younger patients show characteristic basal ganglia calcifications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=30
  3343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:ataxia becomes evident at the end of the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=30
  3344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:atypical affected males, 'cardiac variants' 301500.0005 exist
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=30
  3345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cytochrome b-positive cgd, type i
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=30
  3346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cytochrome b-positive cgd, type ii
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=30
  3347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cytochrome b-positive cgd, type ii (233710)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=30
  3348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average age at onset 16.6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=30
  3349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average age at onset 18.6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=30
  3350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average age at onset 38 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=30
  3351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average age at onset between 40 and 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=30
  3352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average age of onset 13 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=30
  3353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average duration of illness 8 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=30
  3354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:average onset 6-10 months (range 3-24)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=30
  3355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:based on 1 5-generation family (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:based on 1 reported patient (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:based on one report of a 4-generation family with 4 affected males and 6 affected females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | rel=r_associated | relid=0 | w=30
  3358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:based on report of 2 consanguineous arab families (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=30
  3359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:based on report of 2 sibs in 2008
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=30
  3360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:both heterozygous and homozygous pax3 mutations have been found
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=30
  3361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:brain anomalies variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=30
  3362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:broad range in severity of presentation in sibships
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=30
  3363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | rel=r_associated | relid=0 | w=30
  3364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:candidiasis is restricted to nails of hands and feet
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=30
  3365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:cardiac arrest and sudden death may occur, even in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=30
  3366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | rel=r_associated | relid=0 | w=30
  3367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:carrier females show no clinical phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=30
  3368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:carrier frequency 1:700 in bukhara jewish populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=30
  3369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:caused by inheritance of the mutation on the paternal allele (imprinting)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=30
  3370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:caused by somatic mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=30
  3371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | rel=r_associated | relid=0 | w=30
  3372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:central hypoventilation occurs late in the disease and is often fatal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=30
  3373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:children rarely develop the disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=30
  3374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:chromosome rearrangements gave been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chromosome rearrangements gave been reported | rel=r_associated | relid=0 | w=30
  3375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:chronic, relapsing condition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=30
  3376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:clinical variability seen in waardenburg syndrome type 1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=30
  3377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:clinical variation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical variation | rel=r_associated | relid=0 | w=30
  3378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:clinically similar to torsion dystonia-1 (dyt1, 128100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically similar to torsion dystonia-1 (dyt1, 128100) | rel=r_associated | relid=0 | w=30
  3379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:codominant inheritance has been suggested
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=30
  3380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=30
  3381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:complete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete penetrance | rel=r_associated | relid=0 | w=30
  3382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:complicated and pure forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=30
  3383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:contiguous gene duplication syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=30
  3384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:contractures most severe by midadolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=30
  3385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:corneal diameter decreases with decreasing axial length
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=30
  3386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:date of autopsy:date:pt:^patient:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=30
  3387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death at 20 to 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=30
  3388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death before age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=30
  3389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death due to rapidly progressive pulmonary fibrosis in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=30
  3390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death due to respiratory insufficiency within minutes to hours after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=30
  3391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death in early childhood may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=30
  3392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death may occur in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=30
  3393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:death usually occurs before 5th decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=30
  3394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=30
  3395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | rel=r_associated | relid=0 | w=30
  3396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:dip is a pathologic diagnosis that may represent other disease entities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=30
  3397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:discordant phenotype among monozygotic twins has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=30
  3398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=30
  3399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:earlier onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=30
  3400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:early death (usually by 3 years of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=30
  3401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:early death due to infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death due to infection | rel=r_associated | relid=0 | w=30
  3402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:early exhaustion on exertion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=30
  3403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=30
  3404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:end-stage renal failure in first or second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=30
  3405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:epiphyseal stippling is gone by 8 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=30
  3406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:episodes last 1 to 2 days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=30
  3407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=30
  3408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:exacerbation following stress, decreased food intake, or alcohol use
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=30
  3409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:exercise intolerance often evident in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=30
  3410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:extreme phenotypic variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=30
  3411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:facial dysmorphic features may not be present and may become less apparent in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=30
  3412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:familial occurrence is rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=30
  3413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:fat pads become less prominent with time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=30
  3414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:favorable initial response to l-dopa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=30
  3415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:favorable response to anticonvulsants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=30
  3416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:favorable response to l-dopa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=30
  3417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:features may be bilateral (15/24) or left side (9/24)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=30
  3418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:feeding difficulties, including aspiration, ameliorate with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=30
  3419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:female carriers may have hearing loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have hearing loss | rel=r_associated | relid=0 | w=30
  3420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:female carriers may have short stature and premature ovarian failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=30
  3421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:female preponderance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female preponderance | rel=r_associated | relid=0 | w=30
  3422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:female to male ratio 5:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=30
  3423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:female to male ratio ranges from 2:1 to 4:1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=30
  3424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:females tend to have earlier onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=30
  3425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:five patients have been reported (as of april 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=30
  3426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=30
  3427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=30
  3428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | rel=r_associated | relid=0 | w=30
  3429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:four unrelated families of caucasian european descent have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:four unrelated patients have been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:frequency of attack, monthly - bimonthly
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=30
  3433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:generally considered to be a benign disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=30
  3434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see bafme1, 601068)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see bafme1, 601068) | rel=r_associated | relid=0 | w=30
  3435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see bafme2, 607876)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=30
  3436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cnc2, 605244)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=30
  3437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see hcfp1, 601471)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=30
  3438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see lgmd1a 159000 for overview)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=30
  3439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=30
  3440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=30
  3441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:greater expression in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:greater expression in females | rel=r_associated | relid=0 | w=30
  3442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:group a, found in north american indians, has lactic acidosis and psychomotor retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=30
  3443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hair may normalize at puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=30
  3444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hair, nails, and teeth are normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=30
  3445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:half (50%) of affected patients have a recurrent episode with worse outcome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=30
  3446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hearing loss progresses to profound deafness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=30
  3447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hernia occurs in 22% of adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=30
  3448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterogeneous disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=30
  3449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=30
  3450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygotes may exhibit syndromic manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=30
  3451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=30
  3452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygous females may have gout and/or sensorineural deafness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=30
  3453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygous females more mildly affected than hemizygous males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=30
  3454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing | rel=r_associated | relid=0 | w=30
  3455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=30
  3456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hhs is a more severe variant, often resulting in death in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=30
  3457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:high prevalence in the east asian population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=30
  3458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:higher than expected incidence in identical twins
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:higher than expected incidence in identical twins | rel=r_associated | relid=0 | w=30
  3459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:highest incidence in men of european descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=30
  3460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype and severity, even within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=30
  3461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype, some adults may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=30
  3462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hip joint replacement often necessary
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=30
  3463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hyperpigmented patches increased in size and number with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=30
  3464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:hyponatremia usually associated with gastroenteritis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=30
  3465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:icelandic families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:icelandic families | rel=r_associated | relid=0 | w=30
  3466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:improvement of epimetaphyseal changes with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=30
  3467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=30
  3468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:inborn error of the pyrimidine degradation pathway
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=30
  3469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence 1 in 300,000 in japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=30
  3470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence 1/1,200-1/15,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=30
  3471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence approximately 2-3/10,000 newborns
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=30
  3472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence of 0.51 per million in france
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=30
  3473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 100 in some local nordic areas
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=30
  3474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 3,900 births among jewish persons
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=30
  3475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence of 1% in yarmouth county, nova scotia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=30
  3476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incidence of mh in anesthetized children is 1 in 15,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=30
  3477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance (as low as 30% in some cases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=30
  3478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:incomplete, age-associated penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=30
  3479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=30
  3480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:increased morbidity/mortality in affected males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=30
  3481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:infants may die from apnea or aspiration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=30
  3482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:infants show normal size and appearance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=30
  3483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:initially normal rod responses may become significantly reduced at older age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=30
  3484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | rel=r_associated | relid=0 | w=30
  3485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:intrauterine fetal death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrauterine fetal death | rel=r_associated | relid=0 | w=30
  3486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:laryngeal edema can result in asphyxiation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=30
  3487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:late-adult onset (range 50 to 80 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=30
  3488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:late-adult onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=30
  3489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:later onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=30
  3490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:later onset of ophthalmoparesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=30
  3491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:left side involvement associated with serious cardiac defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=30
  3492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:lesions become more prominent with sun exposure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions become more prominent with sun exposure | rel=r_associated | relid=0 | w=30
  3493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:lesions increase in size and number with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=30
  3494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:lesions provoked by friction, sun exposure, heat, and injury
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=30
  3495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:life-threatening in infancy due to sepsis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=30
  3496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:lifelong occurrence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=30
  3497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:likely allelic to sc phocomelia syndrome (269000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=30
  3498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:liver functions return to normal after 3 to 4 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=30
  3499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:loss initially affects mid and high frequencies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=30
  3500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:loss of ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=30
  3501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:loss of independent ambulation (in 2 of 3 patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=30
  3502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=30
  3503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:majority of affected individuals are female (85%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=30
  3504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:majority of cases in the afrikaner population of south africa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=30
  3505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:majority of eec cases appear to be secondary to tp63 (603273) mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=30
  3506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:malnutrition can be severe, requiring total parenteral nutrition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=30
  3507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:manifestations present in second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=30
  3508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:many cases due to de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=30
  3509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:many patients become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:many patients require cardiac pacemakers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=30
  3511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=30
  3512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:marked variability in the deletion size
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=30
  3513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=30
  3514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:massive aortic aneurysm can cause airway compression in affected infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=30
  3515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | rel=r_associated | relid=0 | w=30
  3516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=30
  3517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:may occur cormorbidly with poland syndrome (173800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=30
  3518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:may or may not be responsive to pyridoxine (vitamin b6) treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=30
  3519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:may result in sudden death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=30
  3520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=30
  3521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mean age at onset 66.8 years (range 47-77)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=30
  3522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mean age at onset is 13 years (range 6 to 43)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=30
  3523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mean age of onset about 62 years (45-79 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=30
  3524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mecp2 mutations are those found in females with rett syndrome (312750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=30
  3525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:median age at diagnosis, 59 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=30
  3526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mental development worsens after onset of seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mental development worsens after onset of seizures | rel=r_associated | relid=0 | w=30
  3527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=30
  3528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:minimal response to surfactant treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=30
  3529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mliii is a heterogeneous disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=30
  3530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mode of inheritance is uncertain
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=30
  3531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=30
  3532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:more common in women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in women | rel=r_associated | relid=0 | w=30
  3533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:more severe in males than in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=30
  3534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most common disorder of fatty acid oxidation (1/13,000 births)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=30
  3535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most common form of congenital methemoglobinemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=30
  3536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most common subtype of frontotemporal dementia (600274)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=30
  3537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=30
  3538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients are asymptomatic and are detected by newborn screening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=30
  3539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients become seizure-free by age 3 or 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=30
  3540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients die in first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=30
  3541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients need assistance walking or are wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=30
  3542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:most patients retain ambulation with aids
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=30
  3543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:motor symptoms show mild clinical improvement with levodopa treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=30
  3544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:multiorgan failure may result from hs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=30
  3545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=30
  3546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:neurologic deterioration is severe after age 2 to 2.5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=30
  3547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:neurologic dysfunction is infrequent and associated with delayed diagnosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=30
  3548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:neurologic findings closely resemble those of huntington disease (hd, 143100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=30
  3549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:neurologic signs are present in the neonatal period only
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=30
  3550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:neurologic symptoms may occur after trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=30
  3551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:no opportunistic infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=30
  3552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:normal alleles contain up to 30 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=30
  3553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:normal range of expanded repeats 9-29, hd range 36-121
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=30
  3554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:not all nails are affected in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=30
  3555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:not all patients have facial dysmorphism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=30
  3556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:not responsive to biotin treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=30
  3557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) | rel=r_associated | relid=0 | w=30
  3558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:nyctalopia is a later feature of the disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=30
  3559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:nystagmus is often the presenting sign
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=30
  3560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:often identified in newborn period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=30
  3561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:often lethal in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=30
  3562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:often refractory to medical therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=30
  3563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one chinese family has been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one chinese family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one chinese family has been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=30
  3565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=30
  3566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated january 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=30
  3567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one family reported with piezo2 mutation (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one family with 3 affected males has been reported (as of october 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=30
  3569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one family with 5 affected members has been reported (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one large 4-generation uruguayan family reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one of the most common autoimmune diseases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=30
  3572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one patient had onset at age 4 months after normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=30
  3573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one patient reported with slitrk1 mutation (as of january 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=30
  3574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one patient studied at molecular level (as of july 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=30
  3575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:one patient was less severely affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=30
  3576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:only some patients showed neurologic involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=30
  3577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:only women have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only women have been reported | rel=r_associated | relid=0 | w=30
  3578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset 3rd to 4th decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=30
  3579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset 5-30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=30
  3580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset 6 to 12 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=30
  3581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset age 15-25 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=30
  3582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset at 5-24 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=30
  3583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset at age 10 to 14 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=30
  3584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset at age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=30
  3585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=30
  3586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 9 months after normal early development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=30
  3587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset between birth and 3 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=30
  3588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset beyond the second year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=30
  3589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in childhood or adolescence (median age of 9 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=30
  3590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in childhood or early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=30
  3591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in early childhood (4 to 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=30
  3592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in early childhood to puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=30
  3593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in early to late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=30
  3594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in infancy (3 months on)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=30
  3595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in infancy after weaning from being breast-fed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=30
  3596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in infancy or late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=30
  3597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in infancy, but may not be diagnosed until later in mild cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=30
  3598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in second to third decades (postlingual)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=30
  3599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in the first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=30
  3600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset in the second to fourth decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=30
  3601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of abnormal eye movements in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=30
  3602. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of ataxia in early childhood (range 15 months to 3 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=30
  3603. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of choreoathetosis in childhood or young adult (6-23 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=30
  3604. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of disease 7 months to 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=30
  3605. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of dystonia at 12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=30
  3606. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of hearing loss in childhood (range 7 to 13 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=30
  3607. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of joint contractures later in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=30
  3608. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of major clinical features in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=30
  3609. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of neurologic events can occur between 4 and 35 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=30
  3610. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of scoliosis as early as 2 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=30
  3611. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of seizures in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=30
  3612. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of seizures in later childhood (5 to 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=30
  3613. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of seizures ranges from 2 to 11 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=30
  3614. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of sensory neuropathy in later adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=30
  3615. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of symptoms 2-6 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=30
  3616. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset of symptoms less than one year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=30
  3617. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=30
  3618. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset ranges from young adulthood to sixties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=30
  3619. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset usually after age 40
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=30
  3620. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:onset usually before age 40 years (range 15 to 55)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=30
  3621. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:other half show head circumference more retarded than height
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=30
  3622. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | rel=r_associated | relid=0 | w=30
  3623. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:pain tends to occur later in the day
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=30
  3624. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:paternal anticipation bias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=30
  3625. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:pathogenic alleles contain 71 to 1,300 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=30
  3626. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients are prone to impaired thermoregulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=30
  3627. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients can be divided into 2 groups based on whether typical hand anomalies are present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=30
  3628. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients have normal levels of vitamin a, beta-carotene, and zinc
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=30
  3629. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | rel=r_associated | relid=0 | w=30
  3630. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients look as if they have protein deficiency or malnutrition
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=30
  3631. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients may become wheelchair-bound as adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=30
  3632. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients require achilles tendon lengthening in first or second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=30
  3633. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients with adult onset present with psychiatric features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=30
  3634. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=30
  3635. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients with longer disease duration show motor neuron involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=30
  3636. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | rel=r_associated | relid=0 | w=30
  3637. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=30
  3638. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:peripheral neuropathy occurs in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=30
  3639. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:persistence of febrile seizures beyond age 6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=30
  3640. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=30
  3641. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with cytochrome c oxidase deficiency (220110)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=30
  3642. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=30
  3643. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:phenotypic similarities to noonan syndrome (163950)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=30
  3644. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene | rel=r_associated | relid=0 | w=30
  3645. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:pigmented spots appear in infancy through childhood and fade in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=30
  3646. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:poor or no response to glucocorticoid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=30
  3647. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:possible defect of a specific lipase in the pathway of free fatty acid oxidation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=30
  3648. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prenatal or perinatal death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=30
  3649. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence in poland is 1 in 129,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=30
  3650. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence is estimated to be 1 in 150,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=30
  3651. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence of 0.5 to 1 in 1,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=30
  3652. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 2,833 in zimbabwe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=30
  3653. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence of 19 in 1,000,000 in sweden
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=30
  3654. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalence of true hypoprothrombinemia is 1 in 2 million
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=30
  3655. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=30
  3656. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:prevalent in sweden
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=30
  3657. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:progression of the disorder is precipitated by viral symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=30
  3658. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:progressive disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disorder | rel=r_associated | relid=0 | w=30
  3659. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:progressive sclerosis with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=30
  3660. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:rarely produces clinical jaundice
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=30
  3661. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:recurrent bacterial infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=30
  3662. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=30
  3663. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:reduced penetrance in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=30
  3664. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | rel=r_associated | relid=0 | w=30
  3665. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:relatively benign course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively benign course | rel=r_associated | relid=0 | w=30
  3666. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:relatively mild course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively mild course | rel=r_associated | relid=0 | w=30
  3667. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:reported in individuals of french canadian origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=30
  3668. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:reported in individuals of sephardic jewish ancestry
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=30
  3669. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:residual neurologic deficits are slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=30
  3670. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:resource identifier:uri:pt:study:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=30
  3671. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant giant axonal neuropathy (610100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=30
  3672. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also benign neonatal epilepsy (ebn1, 121200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=30
  3673. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also febrile seizures (feb1, 121210)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=30
  3674. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also oca1a (203100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=30
  3675. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also recessive deb (226600), an allelic disorder with a more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=30
  3676. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=30
  3677. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:see also the x-linked form (300291)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=30
  3678. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures are fever-sensitive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=30
  3679. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures are usually refractory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=30
  3680. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures become nearly continuous
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=30
  3681. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures may be refractory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=30
  3682. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures may improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=30
  3683. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures may occur with illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=30
  3684. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures may persist into adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=30
  3685. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=30
  3686. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:seizures usually occur in the first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=30
  3687. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3688. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3689. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3690. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3691. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3692. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3693. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:severe hearing loss by age 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=30
  3694. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:severe volume depletion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=30
  3695. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:severely affected individuals may carry 2 mutated alleles
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=30
  3696. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:severity of clinical phenotype varies both within and between kindreds
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=30
  3697. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:severity of skin symptoms may vary within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=30
  3698. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | rel=r_associated | relid=0 | w=30
  3699. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=30
  3700. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:single lesions in sporadic cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=30
  3701. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:sister of affected male siblings had mild learning disabilities and obesity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=30
  3702. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:six patients from 4 families have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3703. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:skin appears normal at birth, with development of generalized ichthyosis in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=30
  3704. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:skin lesions exacerbated by heat, exercise (sweating), and sunlight
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=30
  3705. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:slow course of functional deterioration compared to severity of mri findings
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=30
  3706. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:slow progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slow progression | rel=r_associated | relid=0 | w=30
  3707. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=30
  3708. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients can hold menial jobs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=30
  3709. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients have only plantar surface involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=30
  3710. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients may benefit from coenzyme q10 treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=30
  3711. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients may develop concurrent failure to thrive and dyslipidemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=30
  3712. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients may have residual muscle weakness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=30
  3713. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients may not have recurrent infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=30
  3714. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients may show a favorable response to oral coenzyme q10 supplementation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=30
  3715. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients never gain ambulation or become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3716. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients report increased tolerance to heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=30
  3717. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients report seasonal variation in symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=30
  3718. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients show onset later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=30
  3719. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:some patients with heterozygous mutations may be symptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=30
  3720. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:static or slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=30
  3721. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:subtle facial phenotype compared to other types of hpe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=30
  3722. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:susceptibility to infections start in the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=30
  3723. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptom onset ranges from infancy to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=30
  3724. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms noted at 2-3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=30
  3725. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms occur only during sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=30
  3726. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms precipitated by stress, exertion, fatigue, alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=30
  3727. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=30
  3728. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms relieved by progesterone antagonist (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=30
  3729. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms usually induced only by strenuous exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=30
  3730. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:symptoms vary according to location of tumor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=30
  3731. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:telangiectases persist in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=30
  3732. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:telangiectasia become evident between the second and eighth year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=30
  3733. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:the characteristic changes in the spine resolve by adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=30
  3734. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) | rel=r_associated | relid=0 | w=30
  3735. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three families have been reported (last curated november 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=30
  3736. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three patients from 1 french canadian family have been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=30
  3737. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three patients from 2 families have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3738. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three patients have been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  3739. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three patients have been reported (as of november 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=30
  3740. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three patients have been reported (as of october 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=30
  3741. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:three unrelated patients have been reported (last curated january 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=30
  3742. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:treatment with levodopa is not effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=30
  3743. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:treatment with oral coenzyme q may ameliorate symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=30
  3744. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=30
  3745. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | rel=r_associated | relid=0 | w=30
  3746. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:twelve or more lesions per eye in individuals over 60 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=30
  3747. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:twenty-five percent of affected babies are stillborn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=30
  3748. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two brothers have been reported (last curated august 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two brothers have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=30
  3749. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) | rel=r_associated | relid=0 | w=30
  3750. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two families have been reported (as of june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=30
  3751. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two families have been reported (september 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=30
  3752. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two forms: iia (severe) and iib (mild)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=30
  3753. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two japanese families have been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  3754. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two patients with a wws phenotype have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=30
  3755. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two probands have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=30
  3756. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two sibs have been reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  3757. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3758. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3759. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated girls reported (last curated october 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=30
  3760. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=30
  3761. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3762. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:two unrelated patients reported (last curated september 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3763. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:type 2 porencephaly is usually symmetrical and results from developmental malformation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=30
  3764. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:type ii patients are usually japanese and have significant aprt activity (10-25%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=30
  3765. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:type iiia has both liver and muscle involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=30
  3766. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:upper limb involvement in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=30
  3767. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=30
  3768. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus | rel=r_associated | relid=0 | w=30
  3769. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:usually fatal in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=30
  3770. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:usually no increased fragility of hair
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=30
  3771. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:usually progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually progressive | rel=r_associated | relid=0 | w=30
  3772. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=30
  3773. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age at onset (late childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=30
  3774. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range 10 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=30
  3775. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range 4 to 40 years, mostly in first or second decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=30
  3776. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age at onset from childhood to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=30
  3777. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age at onset, ranging from 18 months to 27 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=30
  3778. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable age of onset of parkinsonism (first decade to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=30
  3779. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable expressivity of each feature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=30
  3780. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable frequency (2 per day up to 1 per month)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=30
  3781. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable frequency (daily to monthly)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=30
  3782. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable frequency (weekly to yearly)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=30
  3783. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable infectious phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=30
  3784. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable neurologic phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=30
  3785. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable progression | rel=r_associated | relid=0 | w=30
  3786. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable severity (in patients with hsan2d)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=30
  3787. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variable severity, some patients have a protracted course with little neurologic involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=30
  3788. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:variation in slc24a5 has also been associated with variation in skin color (shep4)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=30
  3789. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:vhl type 2c - pheochromocytoma only
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=30
  3790. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:visual impairment is present at birth and is progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=30
  3791. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:wheelchair use by 10-30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=30
  3792. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:women may be mildly affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=30
  3793. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 30 / 0.698 -> en:worldwide frequency of 1 in 2,000,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=30
  3794. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:(2) intermittent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=29
  3795. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:(3) adult nonnephropathic (219750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=29
  3796. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=29
  3797. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:12% due to epimutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=29
  3798. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:15 patients from 5 kindreds reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=29
  3799. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:85-90% with manifestations in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=29
  3800. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | rel=r_associated | relid=0 | w=29
  3801. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:a second family had mild intellectual disability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=29
  3802. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:a subgroup of patients with sponastrime dysplasia have severe mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=29
  3803. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:abnormal sensitivity to therapeutic radiation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=29
  3804. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:about 15% of female carriers develop renal insufficiency in the second or third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=29
  3805. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:accounts for <2% of patients with alzheimer's disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=29
  3806. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:adult onset (37 to 57 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=29
  3807. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:adult onset (sixth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=29
  3808. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:adult onset (third decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=29
  3809. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:adult onset (wide range of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=29
  3810. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:adult onset from second to seventh decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=29
  3811. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:affected individuals have amnesia for events
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=29
  3812. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:affected individuals may have learning or behavioral problems during the period when seizures occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=29
  3813. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:affected infants appear normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=29
  3814. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:affected males are infertile, whereas affected females have recurrent pregnancy loss
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=29
  3815. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age at diagnosis 9 +/- 6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=29
  3816. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age at diagnosis of cataract may range up to 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=29
  3817. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age at menopause:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=29
  3818. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age at onset ranges from 50 to 70 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=29
  3819. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age of onset 43-64 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=29
  3820. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age of onset 5 to 22 years (mean 6.9)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=29
  3821. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age of onset third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=29
  3822. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=29
  3823. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age:time:pt:^egg donor:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=29
  3824. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:age:time:pt:^patient:qn:reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=29
  3825. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:all reported cases result from de novo mutation (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=29
  3826. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder is long qt syndrome-3 (lqt3, 603830)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=29
  3827. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=29
  3828. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=29
  3829. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=29
  3830. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=29
  3831. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=29
  3832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to limb-mammary syndrome (lms, 603543)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=29
  3833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=29
  3834. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorder to the zlotogora-ogur syndrome (225000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=29
  3835. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | rel=r_associated | relid=0 | w=29
  3836. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to aicardi-goutieres syndrome (225750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=29
  3837. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to dentinogenesis imperfecta 1 (125490)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=29
  3838. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to infantile sialic acid storage disorder (269920)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=29
  3839. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=29
  3840. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=29
  3841. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to pendred syndrome, deafness with goiter (274600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=29
  3842. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=29
  3843. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to pseudoachondroplasia (177170)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=29
  3844. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to rett syndrome (312750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=29
  3845. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=29
  3846. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ambulation difficulty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ambulation difficulty | rel=r_associated | relid=0 | w=29
  3847. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ambulation is usually maintained during adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=29
  3848. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:anemia is transfusion-dependent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=29
  3849. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:anemia may show onset in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=29
  3850. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:antenatal onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:antenatal onset | rel=r_associated | relid=0 | w=29
  3851. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:approximately 40% of cases are inherited or new germline mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=29
  3852. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | rel=r_associated | relid=0 | w=29
  3853. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:associated specifically with the gba d409h mutation (606463.0006)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=29
  3854. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:associated with iron deficiency anemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=29
  3855. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:associated with smoking
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with smoking | rel=r_associated | relid=0 | w=29
  3856. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ataxia is nonprogressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=29
  3857. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ataxia is slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=29
  3858. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:autonomic dysfunction usually precedes obvious neurologic deterioration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=29
  3859. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:autosomal dominant (177000.0003)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant (177000.0003) | rel=r_associated | relid=0 | w=29
  3860. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:autosomal dominant with complete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=29
  3861. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has also been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=29
  3862. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has been reported (see 601253.0010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=29
  3863. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:average age of onset 57 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=29
  3864. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:based on 1 uruguayan family (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=29
  3865. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:based on report of 1 family (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3866. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:based on report of 1 japanese family (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=29
  3867. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age | rel=r_associated | relid=0 | w=29
  3868. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:benign, asymptomatic defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=29
  3869. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:birth rate of 7.6 per 1,000,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=29
  3870. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:both homozygous and heterozygous ednrb mutations have been found
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=29
  3871. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:both recessive and dominant inheritance have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=29
  3872. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:can be slowly or rapidly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=29
  3873. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:cardiac failure at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=29
  3874. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:cardiac involvement occurs between 5 and 12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=29
  3875. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:carrier females may show neuropsychologic impairment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=29
  3876. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:carrier mothers have urine biochemistry profiles identical to those of their sons
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=29
  3877. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:caused by constitutive activation of the avpr2 receptor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=29
  3878. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | rel=r_associated | relid=0 | w=29
  3879. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:characteristic face and body by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=29
  3880. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=29
  3881. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:childhood onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=29
  3882. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:chronic disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chronic disease | rel=r_associated | relid=0 | w=29
  3883. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:classical form (type i), less severe with survival into adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=29
  3884. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinical features based on 1 reported family (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=29
  3885. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinical features may vary
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=29
  3886. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=29
  3887. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinical presentation varies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=29
  3888. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinically mimics congenital torch infections (see 251290)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=29
  3889. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clinically unaffected heterozygotes may show changes on electroretinography
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=29
  3890. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:clubfoot is bilateral in most patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=29
  3891. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=29
  3892. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:cold temeratures exacerbate symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=29
  3893. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:cone-shaped epiphyses usually not present before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=29
  3894. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=29
  3895. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:congenital onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital onset | rel=r_associated | relid=0 | w=29
  3896. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:congenital onset or onset before 2 years (prelingual)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=29
  3897. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:contiguous gene syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=29
  3898. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:d-hus is usually familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=29
  3899. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative | rel=r_associated | relid=0 | w=29
  3900. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | rel=r_associated | relid=0 | w=29
  3901. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=29
  3902. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=29
  3903. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death frequent in severe infantile form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=29
  3904. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death in childhood is frequent due to respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=29
  3905. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death in infancy in 2 patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=29
  3906. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death in the mid-twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=29
  3907. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death in utero or in early infancy is common
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=29
  3908. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death occurs before 12 months of age due to cardiorespiratory arrest
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=29
  3909. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death often in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=29
  3910. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death often occurs in the first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=29
  3911. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death usually in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=29
  3912. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death usually in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=29
  3913. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:death usually occurs in early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=29
  3914. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:deletions in naip gene (600355) found in 18% of smaii patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=29
  3915. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:dermatitis resolves in offspring after zinc supplementation and/or weaning
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=29
  3916. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:diagnosis in the second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=29
  3917. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:distinct disorder from autosomal dominant hyper ige syndrome (147060)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=29
  3918. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:distinct from pili annulati (180600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=29
  3919. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:distinctive and stereotyped sequence of events
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=29
  3920. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:dopa-responsive rigidity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=29
  3921. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:drug-induced dyskinesias occur in a subset of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=29
  3922. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:dysmorphic features are mild or variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=29
  3923. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:dysmorphic features were only reported in 1 patient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=29
  3924. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:early childhood onset (before age 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=29
  3925. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:early death without bone marrow transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=29
  3926. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:early-onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early-onset | rel=r_associated | relid=0 | w=29
  3927. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:electroretinogram reduction as early as 4 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=29
  3928. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | rel=r_associated | relid=0 | w=29
  3929. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:episode, syncopal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=29
  3930. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:episodes are followed by exhaustion and sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=29
  3931. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=29
  3932. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:episodes last from several hours to days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=29
  3933. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:estimated frequency of 1 in 40,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=29
  3934. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:exacerbation during febrile episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=29
  3935. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:expression more severe in females than males, except for mosaic males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=29
  3936. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:extremely variable phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=29
  3937. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:fatal multiorgan failure due to severe inflammatory response in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=29
  3938. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:fatal without hematopoietic stem cell transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=29
  3939. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:favorable response to a ketogenic diet
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=29
  3940. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:favorable response to alcohol
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=29
  3941. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:favorable response to antibodies against tnf-alpha (tnfa, 191160)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=29
  3942. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=29
  3943. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:female carriers may be mildly affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=29
  3944. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:female carriers may have mild hearing impairment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=29
  3945. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:females are most often affected, but rare male cases have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=29
  3946. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:first described in acadian population of louisiana
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=29
  3947. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=29
  3948. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:five clinical variants of msud unassociated with genotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=29
  3949. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:flares triggered by viral infection, overexertion, stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=29
  3950. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:flunarizine treatment may be beneficial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=29
  3951. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:food related behavioral problems include excessive appetite and obsession with eating
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=29
  3952. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=29
  3953. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:four cases have been reported, all female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=29
  3954. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:four clinically indistinguishable biochemically distinct forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=29
  3955. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:four patients from 3 families have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=29
  3956. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:four patients have been reported (last curated june 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=29
  3957. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:fracture frequency increases after menopause and in men ages 60-80
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=29
  3958. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:frequency and severity of symptoms do not worsen with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=29
  3959. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:frequency of attacks may decrease with age or during pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=29
  3960. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:gastric suction pump, home model, portable or stationary, electric
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=29
  3961. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic anticipation has been observed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=29
  3962. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 166600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=29
  3963. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 191100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=29
  3964. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmt4a 214400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=29
  3965. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see mada, 248370)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=29
  3966. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see npc2, 607625)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=29
  3967. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=29
  3968. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see fhm1 141500
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=29
  3969. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, some patients not linked to fgfr3
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=29
  3970. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:gonadal mosaicism may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=29
  3971. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hairy elbows become apparent in infancy and regress during adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=29
  3972. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hearing loss may be stable or progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=29
  3973. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hearing loss occurs in late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=29
  3974. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:heterozygotes exhibit blue sclerae and soft velvety skin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=29
  3975. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | rel=r_associated | relid=0 | w=29
  3976. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=29
  3977. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:heterozygous female carriers may manifest symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=29
  3978. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:high frequencies affected before low frequencies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=29
  3979. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:high frequency in finnish population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=29
  3980. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:high incidence in sweden and finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=29
  3981. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:high mortality in infancy and early childhood (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=29
  3982. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:high risk of death in infancy due to cardiac failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=29
  3983. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=29
  3984. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype, even within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=29
  3985. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | rel=r_associated | relid=0 | w=29
  3986. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hyperthermia in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=29
  3987. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | rel=r_associated | relid=0 | w=29
  3988. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:imprinting at 11p15.5
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=29
  3989. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:improvement with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:improvement with age | rel=r_associated | relid=0 | w=29
  3990. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence 1 in 15,000-28,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=29
  3991. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence in the finnish population of 0.2-1.3 cases per million per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=29
  3992. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence is less than 1 in 70,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=29
  3993. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 1,000,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=29
  3994. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 20,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=29
  3995. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 276,000 in the netherlands
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=29
  3996. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 5,000-8,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=29
  3997. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incidence of 12.2 per 100,000 in finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=29
  3998. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | rel=r_associated | relid=0 | w=29
  3999. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=29
  4000. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=29
  4001. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:increased frequency in ashkenazi jewish population (1/100 are carriers)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=29
  4002. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:increased paternal age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased paternal age | rel=r_associated | relid=0 | w=29
  4003. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:increased risk of developing multiple primary cancers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=29
  4004. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=29
  4005. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:individuals with the pcs trait are phenotypically normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=29
  4006. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infantile form has onset within first 6 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=29
  4007. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infantile onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile onset | rel=r_associated | relid=0 | w=29
  4008. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infantile onset (in 1 patient)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=29
  4009. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infants are stillborn or die before age 1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=29
  4010. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infants are stillborn or die shortly after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=29
  4011. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:infants occasionally mistaken as having down syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=29
  4012. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:initial development may appear normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=29
  4013. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:insidious onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:insidious onset | rel=r_associated | relid=0 | w=29
  4014. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:interfamilial and intrafamilial clinical heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=29
  4015. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:intolerant of heat
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=29
  4016. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:juvenile absence epilepsy (jae, 607631)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=29
  4017. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:laboratory director name:pn:pt:provider:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=29
  4018. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness | rel=r_associated | relid=0 | w=29
  4019. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:lifetime risk of breast cancer in male mutation carriers in 6%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=29
  4020. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:lipodystrophic appearance may be mild or not present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=29
  4021. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:live born infants die within few hours of birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=29
  4022. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:long duration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:long duration | rel=r_associated | relid=0 | w=29
  4023. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:loss of tumor suppressor gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=29
  4024. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:lower limb involvement precedes upper limb involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=29
  4025. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:lower limb weakness is presenting feature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=29
  4026. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:lymphedema resolves by age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=29
  4027. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:majority are stillborn or die in early neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=29
  4028. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:majority cases are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=29
  4029. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:majority of cases diagnosed at age 10-15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=29
  4030. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=29
  4031. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:male patients have more severe disease than female patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=29
  4032. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:male-to-female ratio 3 to 1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=29
  4033. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:many cases are sporadic, but somatic and germline mosaicism has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=29
  4034. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:may be asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=29
  4035. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:may be induced by fever or hot bath
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=29
  4036. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=29
  4037. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:may result in early death from severe diarrhea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=29
  4038. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age at onset 24 years (range 14 to 33 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=29
  4039. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age at onset 28 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=29
  4040. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age at onset is 10.4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=29
  4041. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age of diagnosis of uterine leiomyomas is 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=29
  4042. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age of onset 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=29
  4043. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mean age of onset 30 years (range 25-42)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=29
  4044. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:median onset of proteinuria is 18 years (range 10 to 21)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=29
  4045. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:metabolic rate^resting:engrto:pt:^patient:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:metabolic rate^resting:engrto:pt:^patient:qn | rel=r_associated | relid=0 | w=29
  4046. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:midline defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:midline defects | rel=r_associated | relid=0 | w=29
  4047. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mild cases show clinical, biochemical, and mri improvement after the second year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=29
  4048. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mild disease course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild disease course | rel=r_associated | relid=0 | w=29
  4049. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mild features such as digital clubbing may be apparent in older heterozygotes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=29
  4050. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=29
  4051. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mode of inheritance is unclear
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=29
  4052. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most cases result from de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=29
  4053. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=29
  4054. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most common form of bowel obstruction in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=29
  4055. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most common muscle disease of older persons
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=29
  4056. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most patients are severely affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=29
  4057. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most patients become wheelchair-bound in adolescence or as young adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=29
  4058. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most patients need hip replacement by their mid-thirties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=29
  4059. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most reported cases come from the island of mauritius or nearby islands
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=29
  4060. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:most severe form of gaucher disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=29
  4061. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:motor developmental delay
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor developmental delay | rel=r_associated | relid=0 | w=29
  4062. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mulibrey is an acronym (muscle, liver, brain, and eyes)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=29
  4063. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:multiple gene loci involved in causation of schizophrenia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=29
  4064. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:multiple spontaneous abortions in obligate carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=29
  4065. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:murcs association
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:murcs association | rel=r_associated | relid=0 | w=29
  4066. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mutation in npr2 results in gain-of-function
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=29
  4067. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:mutation in rp9 gene in family (607331.0001) likely not pathogenic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=29
  4068. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=29
  4069. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:neonatal/infantile death in most patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=29
  4070. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:neuromuscular, cardiovascular, and infectious symptoms improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=29
  4071. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ninety percent of cases are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=29
  4072. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:no dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=29
  4073. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:no skeletal abnormalities in odontohypophosphatasia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=29
  4074. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:non-progressive and more severe progressive forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=29
  4075. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:normal alleles have 25 to 44 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=29
  4076. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:normal development until onset of seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=29
  4077. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:normal female secondary sexual characteristics
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=29
  4078. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:normal fertility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal fertility | rel=r_associated | relid=0 | w=29
  4079. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:nystagmus may disappear by mid-childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=29
  4080. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:occasionally low-dose insulin required
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=29
  4081. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:occurs much more commonly in women
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=29
  4082. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:occurs on right side in 75% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=29
  4083. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:often fatal due in infancy due to intractable diarrhea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=29
  4084. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:often unilateral involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=29
  4085. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one 4-generation chinese family has been reported (as of 04/2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=29
  4086. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one chinese family has been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  4087. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=29
  4088. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  4089. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one consanguineous saudi family has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  4090. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one consanguineous turkish family has been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=29
  4091. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one family and 1 unrelated patient have been reported (last curated january 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=29
  4092. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one family and 1 unrelated patient have been reported (last curated july 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=29
  4093. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
  4094. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=29
  4095. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one family with a fatal subacute encephalopathy has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=29
  4096. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one german family has been reported (as of september 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=29
  4097. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=29
  4098. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  4099. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one patient had onset at birth and a more severe disorder resulting in death at a young age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | rel=r_associated | relid=0 | w=29
  4100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one patient has been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29
  4101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one patient reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=29
  4102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:one spanish family has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=29
  4103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:only 10% develop hypertension at 18 years of age or less
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=29
  4104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset 1-70 years of age (95% by early 50's)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=29
  4105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset 14 months to 4 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=29
  4106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset about 6 months of age after normal growth and development in the first few months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset about 6 months of age after normal growth and development in the first few months of life | rel=r_associated | relid=0 | w=29
  4107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset as neonate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset as neonate | rel=r_associated | relid=0 | w=29
  4108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset at 6-36 hours of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=29
  4109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset at birth or in first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=29
  4110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset before adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=29
  4111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset before age 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=29
  4112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset between 12 and 30 years (average 22)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=29
  4113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset between 15 and 27 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=29
  4114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset between age 30-50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=29
  4115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset between second to sixth decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=29
  4116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset between the second and sixth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=29
  4117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range 4 to 12 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=29
  4118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range infancy to 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=29
  4119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in childhood, adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=29
  4120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in early adulthood (average 26 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=29
  4121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in early twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=29
  4122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in feet and legs (peroneal distribution)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29
  4123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in first and second decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=29
  4124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in first decade (birth to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=29
  4125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in first decades (males)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=29
  4126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in fourth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=29
  4127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in fourth to sixth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=29
  4128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in late teens to twenties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=29
  4129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in newborns or infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=29
  4130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in second and third decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=29
  4131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in teenage or young adult years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=29
  4132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in teens or young adulthood (range 13 to 45 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=29
  4133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in the 3rd decade of life or later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=29
  4134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in third or fourth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=29
  4135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=29
  4136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset in young adulthood (range 18 to 23 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=29
  4137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of achalasia in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=29
  4138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of bone fragility in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=29
  4139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of deafness and diabetes in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=29
  4140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of disease within the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=29
  4141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of edema in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=29
  4142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of encephalopathy between ages 2 and 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=29
  4143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of hemolytic anemia shortly after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=29
  4144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of hyperuricemia or gout in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=29
  4145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of muscle weakness in fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=29
  4146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=29
  4147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of seizures around 7 to 12 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=29
  4148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of seizures between 9 and 12 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=29
  4149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of seizures in first 6 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=29
  4150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of symptoms between ages 3-8 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=29
  4151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset of symptoms in third to sixth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=29
  4152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset often in late adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=29
  4153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in childhood (infancy to teens)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=29
  4154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=29
  4155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in early adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=29
  4156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in early childhood, although ranges from birth to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=29
  4157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in first month of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=29
  4158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=29
  4159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=29
  4160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:onset usually in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=29
  4161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:ophthalmologic signs onset in first to sixth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=29
  4162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:other muscle become involved about 5 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=29
  4163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:pain is relieved by antiinflammatory medication
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=29
  4164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients become wheelchair-bound in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=29
  4165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients may show both optic neuropathy and dystonia or only 1 disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=29
  4166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients often become wheelchair-bound 3 to 4 decades after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=29
  4167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients often have a more severe and complicated phenotype in addition to peo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=29
  4168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | rel=r_associated | relid=0 | w=29
  4169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=29
  4170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with meb have less severe features and longer survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=29
  4171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | rel=r_associated | relid=0 | w=29
  4172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with total c4 deficiency are homozygous for double null c4 haplotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=29
  4173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=29
  4174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:penetrance 86% by 50 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=29
  4175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:peo is not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:peo is not always present | rel=r_associated | relid=0 | w=29
  4176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:performing laboratory phone:tele:pt:facility:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=29
  4177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:perinatal lethality
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=29
  4178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:persistent exposure to fructose leads to chronic liver and kidney complications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=29
  4179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with desbuquois dysplasia (251450)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=29
  4180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with fhm1 (141500) and sca6 (183086)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=29
  4181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:phenotypic variation (may affect language expression, reception, and/or articulation)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=29
  4182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:plantar contractures become apparent with onset of ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=29
  4183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:possible gonadal mosaicism in one report
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=29
  4184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:postlingual onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:postlingual onset | rel=r_associated | relid=0 | w=29
  4185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:precipitated by infection, fasting, or intercurrent illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=29
  4186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:precipitated by sleep deprivation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=29
  4187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:precipitating factors - ingestion of wheat gluten, rye, and/or barley
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=29
  4188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:predisposition to neoplasia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=29
  4189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:present in infancy in all affected individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=29
  4190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=29
  4191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 1,500
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=29
  4192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=29
  4193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 227 hopi indians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=29
  4194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 40,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=29
  4195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of approximately 1 in 2000 individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=29
  4196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of in 1 in 8,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=29
  4197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalence of sleep terrors less than 1% in adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=29
  4198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalent among individuals of east asian descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=29
  4199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=29
  4200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=29
  4201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:profound dementia and death usually occurs by age 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=29
  4202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progresses to involve upper limbs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=29
  4203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progressive cerebellar ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=29
  4204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progressive deafness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive deafness | rel=r_associated | relid=0 | w=29
  4205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progressive disorder due to secondary myopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=29
  4206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progressive disorder regarding both neurologic and renal symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=29
  4207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:progressive disorder, with older patients exhibiting more severe symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=29
  4208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:psychiatric symptoms may be the presenting sign
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=29
  4209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:pulsatile headache lasts hours to days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=29
  4210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:quinidine therapy is effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:quinidine therapy is effective | rel=r_associated | relid=0 | w=29
  4211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:rapid progression to disability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=29
  4212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:rapidly progressive (6-24 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=29
  4213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:rapidly progressive neonatal onset with early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=29
  4214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:rash, edema, and arthralgia may occur during crisis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=29
  4215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reduced penetrance (75%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=29
  4216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reduced penetrance (89%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=29
  4217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=29
  4218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=29
  4219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=29
  4220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:relatively benign course after acute episodes in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=29
  4221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:renal failure in second or third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=29
  4222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:renal involvement and coloboma may not be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=29
  4223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:reported in the ohio amish anabaptist community
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=29
  4224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:responsive to high-dose biotin or biotin/thiamine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=29
  4225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:risk of thromboembolic stroke
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=29
  4226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:sando (607459) is a phenotypic variant of autosomal recessive peo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=29
  4227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:secondary features include arterial hypertension and renal involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=29
  4228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see 177850 for description of heterozygous phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=29
  4229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant form (128230)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=29
  4230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant sick sinus syndrome (163800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=29
  4231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also autosomal form, 146450, and another x-linked form, 300758
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=29
  4232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also autosomal recessive form (612304)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=29
  4233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also cblc (277400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=29
  4234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also cbld (277410)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=29
  4235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | rel=r_associated | relid=0 | w=29
  4236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also dyssegmental dysplasia, silverman-handmaker type (224410)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=29
  4237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also optic atrophy with deafness (125250), an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=29
  4238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=29
  4239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also severe, early-onset form (300717)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=29
  4240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also simplex eb with pyloric atresia (612138)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=29
  4241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=29
  4242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) | rel=r_associated | relid=0 | w=29
  4243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizure frequency decreases during early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=29
  4244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures are followed by drowsiness in most cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=29
  4245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures are usually intractable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=29
  4246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures last about 30 seconds to 3 minutes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=29
  4247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=29
  4248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures tend to become more focal with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=29
  4249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:seizures usually remit spontaneously by 12 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=29
  4250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:severity of hematologic disorder decreases with advancing age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=29
  4258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:simple febrile seizures usually remit by age 6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=29
  4259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:slow, progressive growth, then stable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=29
  4260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:solitary disease is more common in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=29
  4261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:somatic or germline mosaicism may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=29
  4262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some heterozygotes may have increased urinary excretion of cystine and may develop stones
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=29
  4263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients are clinically unaffected.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=29
  4264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | rel=r_associated | relid=0 | w=29
  4265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients experience later reversal of hypogonadotropic hypogonadism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=29
  4266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients have a milder nonprogressive phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=29
  4267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients have a secreted but biologically inactive mutant leptin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=29
  4268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients have isolated cfeom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=29
  4269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients have juvenile-onset myoclonic epilepsy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=29
  4270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients have no clinical symptoms and are detected by routine newborn screening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=29
  4271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients may have a more protracted disorder with neurodegeneration
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=29
  4272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients may have normal psychomotor development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=29
  4273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | rel=r_associated | relid=0 | w=29
  4274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients may show response to immunosuppressive agents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=29
  4275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients require cardiac transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=29
  4276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients show rapid disease progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=29
  4277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients show significant clinical improvement with riboflavin supplementation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=29
  4278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=29
  4279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:some response to l-dopa therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=29
  4280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:subset of patients have french-canadian leigh syndrome (220111)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=29
  4281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:subset of patients have leigh syndrome (256000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=29
  4282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=29
  4283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:successful treatment with oral isotretinoin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=29
  4284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:survival greater than one year rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=29
  4285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:swelling starts to fade by age 30 years and gradually becomes unremarkable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=29
  4286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:symptoms are not apparent at rest
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=29
  4287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:symptoms benefit from sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=29
  4288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=29
  4289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:symptoms typically begin in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=29
  4290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=29
  4291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:systemic amyloid deposition may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=29
  4292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:thin, fine hair described in few individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=29
  4293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:this patient died at age 8 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=29
  4294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | rel=r_associated | relid=0 | w=29
  4295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three families have been reported (as of 28 june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=29
  4296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three families have been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=29
  4297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three main phenotypes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=29
  4298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three patients have been described (last curated january 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=29
  4299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=29
  4300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:three unrelated patients have been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=29
  4301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:time of analysis:tmstp:pt:xxx:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=29
  4302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:toe-walking gait
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=29
  4303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:tumor predisposition syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=29
  4304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:tumors are microsatellite stable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=29
  4305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two arab muslim families have been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  4306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two consanguineous turkish families have been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  4307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two families described (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=29
  4308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two families with different phenotypes have been reported (as of september 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=29
  4309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two jordanian sibs have been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=29
  4310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two pakistani families reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=29
  4311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two patients without cardiomyopathy or cataracts have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=29
  4312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=29
  4313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  4314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two subtypes, episodic (85% of patients) and chronic (15%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=29
  4315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two types - lethal neonatal and less severe, late onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=29
  4316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | rel=r_associated | relid=0 | w=29
  4317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) | rel=r_associated | relid=0 | w=29
  4318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (as of october 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=29
  4319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two unrelated patients with de novo mutations have been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with de novo mutations have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=29
  4320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:two unrelated patients with different phenotypes have been reported (as of march 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=29
  4321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:typical attacks last from seconds to minutes, but longer occurrences have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=29
  4322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=29
  4323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:upper limb involvement may occur later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=29
  4324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:upper urinary tract usually normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=29
  4325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:urine turns dark on standing and alkalinization
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=29
  4326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:usually begins in feet and legs (peroneal distribution)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29
  4327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:usually death in utero or rarely in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=29
  4328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at diagnosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=29
  4329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (birth to adolescence)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=29
  4330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (childhood to adulthood)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=29
  4331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (infant to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=29
  4332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range 14 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=29
  4333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range 25 to 78 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=29
  4334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range 8 to 60 years, mean 32)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=29
  4335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range birth to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=29
  4336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age at onset, but usually in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=29
  4337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age of onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset | rel=r_associated | relid=0 | w=29
  4338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age of onset (7-59 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=29
  4339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable age of onset (range 4 to 47 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=29
  4340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable clinical phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=29
  4341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable features and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable features and severity | rel=r_associated | relid=0 | w=29
  4342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable features present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable features present | rel=r_associated | relid=0 | w=29
  4343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable involvement of hematologic parameters
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=29
  4344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable penetrance | rel=r_associated | relid=0 | w=29
  4345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable phenotype within families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=29
  4346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable phenotype, particularly with regard to cortical malformations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=29
  4347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable severity that correlates with rate and magnitude of neuronal protein accumulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=29
  4348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable severity, ranging from central severe to peripheral to transient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=29
  4349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:variable survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable survival | rel=r_associated | relid=0 | w=29
  4350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:vast majority of heterozygotes are asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=29
  4351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:visual field and color defects invariably present only in patients with advanced loss of vision
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=29
  4352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:waddling gait noted at age 15-20 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=29
  4353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 29 / 0.674 -> en:x-linked inheritance could not be ruled out
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=29
  4354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:(3) intermediate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=28
  4355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:1 in 50,000 in korea
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=28
  4356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:a subset of patients are responsive to vitamin b12 therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=28
  4357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=28
  4358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:a subset of patients have heterozygous mutations, which may predispose to disease development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=28
  4359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:about 10% of patients have a severe early onset in the first months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=28
  4360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:about 25% of cases due to new mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=28
  4361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:about half of individuals are asymptomatic and identified by newborn screening programs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=28
  4362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:acetazolamide is often effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=28
  4363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset | rel=r_associated | relid=0 | w=28
  4364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:adult onset (mean 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=28
  4365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:adult onset (range 30 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=28
  4366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:adult onset rarely reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=28
  4367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=28
  4368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:affected individuals remain ambulatory in old age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=28
  4369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:affected males are all result of new mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=28
  4370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:affects 1 in 250,000 to 1 million people worldwide
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=28
  4371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:affects 1 to 3% of the population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=28
  4372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age at death:time:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
  4373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age at diagnosis 28 +/- 18 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=28
  4374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age at onset 15 to 25 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=28
  4375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age at onset ranges from neonatal to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=28
  4376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age of onset ranges from infancy to young adulthood (6 months-19 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=28
  4377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age of onset ranges from neonate to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=28
  4378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:age of onset/diagnosis 12-35 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=28
  4379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all cases are de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=28
  4380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all cases have been sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=28
  4381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all patients have duplication of at least the crebbp gene (600140)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=28
  4382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all reported cases have de novo mutations (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=28
  4383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all reported cases have resulted from de novo mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=28
  4384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:all reported mutations have occurred de novo (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all reported mutations have occurred de novo (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=28
  4386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=28
  4387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal recessive form (224900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=28
  4388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) | rel=r_associated | relid=0 | w=28
  4389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=28
  4390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to child syndrome (308050)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=28
  4391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to duane-radial ray syndrome (drrs, 607323)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=28
  4392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=28
  4393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=28
  4394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=28
  4395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=28
  4396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to nieman-pick disease type b (607616)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=28
  4397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=28
  4398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205).
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). | rel=r_associated | relid=0 | w=28
  4399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to craniometaphyseal dysplasia (123000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=28
  4400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to dentin dysplasia, type 2 (125420)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=28
  4401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to dyggve-melchior-clausen disease (223800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=28
  4402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to enhanced s-cone syndrome (268100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=28
  4403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=28
  4404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) | rel=r_associated | relid=0 | w=28
  4405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=28
  4406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to multiple pterygium syndrome, lethal type (253290)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=28
  4407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | rel=r_associated | relid=0 | w=28
  4408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | rel=r_associated | relid=0 | w=28
  4409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=28
  4410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=28
  4411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:anemia is responsive to corticosteroid treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=28
  4412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=28
  4413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:apparent at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:apparent at birth | rel=r_associated | relid=0 | w=28
  4414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:approximately 10% of als cases are familial
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=28
  4415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:approximately 12 patients have been reported (as of march 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=28
  4416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity | rel=r_associated | relid=0 | w=28
  4417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:approximately half of cases are due to de novo deletions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=28
  4418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:approximately one-third of patients become seizure-free with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=28
  4419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=28
  4420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:as of 4/2011, 2 patients have been described in detail
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:as of 4/2011, 2 patients have been described in detail | rel=r_associated | relid=0 | w=28
  4421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:associated with a balanced translocation t(12,22)(p11.2,q13.3)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=28
  4422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:asymptomatic heterozygotes susceptible to lead toxicity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=28
  4423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:attacks typically last for minutes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=28
  4424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:atypical hemolytic-uremic syndrome shows onset in first 12 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=28
  4425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | rel=r_associated | relid=0 | w=28
  4426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal dominant inheritance has been rarely reported (187800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=28
  4427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal dominant inheritance has been reported in a single family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=28
  4428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal recessive cytochrome b-negative cgd (233690)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=28
  4429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal recessive disorder tends to be more severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=28
  4430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=28
  4431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance is most common
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance is most common | rel=r_associated | relid=0 | w=28
  4432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:average age at onset is 24 years (range 4 to 58 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=28
  4433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:average age of onset 15 years (range 4 to 40)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=28
  4434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
  4435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:based on 1 reported family with oca6
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=28
  4436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:based on description of 1 family (last curated april 2006)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=28
  4437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:based on report of 1 consanguineous turkish family (last curated june 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=28
  4438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:based on report of one consanguineous kuwaiti family (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=28
  4440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:blindness episodes are not associated with fhm episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=28
  4441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:blistering becomes confined to the palms and soles with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=28
  4442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:blistering frequency may decrease with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=28
  4443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:bone abnormalities improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=28
  4444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:both demyelinating and axonal features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=28
  4445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=28
  4446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri | rel=r_associated | relid=0 | w=28
  4447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:can be effectively treated with n-carbamylglutamate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=28
  4448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:carnitine supplementation can prevent further episodes and declines in cardiac function
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=28
  4449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=28
  4450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:carrier females may have mild features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=28
  4451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | rel=r_associated | relid=0 | w=28
  4452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:cataracts are progressive but may vary between eyes of an individual
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=28
  4453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:caused by paternally-inherited inactivating gnas1 mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=28
  4454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:child often can sit unsupported but never ambulates
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=28
  4455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=28
  4456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | rel=r_associated | relid=0 | w=28
  4457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:clinical severity varies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=28
  4458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | rel=r_associated | relid=0 | w=28
  4459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:clonidine can alleviate hyperhidrosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=28
  4460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:colchicine treatment is not effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=28
  4461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:common in afrikaan population, south africa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=28
  4462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:common in japan and other asian populations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=28
  4463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:communication board, non-electronic augmentative or alternative communication device
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=28
  4464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:compound heterozygosity common
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=28
  4465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:condition is experienced by patients as harmless and is often discovered incidentally
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=28
  4466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | rel=r_associated | relid=0 | w=28
  4467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:considered a myeloproliferative disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=28
  4468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=28
  4469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:corneal steepening is proportional to the degree of axial foreshortening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=28
  4470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | rel=r_associated | relid=0 | w=28
  4471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:cyp2d6 represents about 1% of total liver cytochrome p450 content
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=28
  4472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=28
  4473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | rel=r_associated | relid=0 | w=28
  4474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death in childhood often results from respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=28
  4475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death in fourth to fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=28
  4476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death in infancy secondary to pulmonary insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=28
  4477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death in the first decade, usually from liver failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=28
  4478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death occurs 10 to 20 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=28
  4479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death occurs in second or third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=28
  4480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death often in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often in infancy | rel=r_associated | relid=0 | w=28
  4481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death secondary to respiratory infection or failure before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=28
  4482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death usually occurs by 12 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=28
  4483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death usually occurs in infancy or childhood if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=28
  4484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:death within first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within first year of life | rel=r_associated | relid=0 | w=28
  4485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:decreased fertility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:decreased fertility | rel=r_associated | relid=0 | w=28
  4486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:described in families from western japan
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=28
  4487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:described in single afrikaner family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=28
  4488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:described predominantly in families from the philippines
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=28
  4489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:development of afebrile seizures later in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=28
  4490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:disability by end of first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=28
  4491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:disorder may progress to involve a larger body area
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=28
  4492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=28
  4493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=28
  4494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:dramatic late catch-up growth occurs in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=28
  4495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=28
  4496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early age of onset, usually less than 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=28
  4497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early death due to sepsis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=28
  4498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early death often due to respiratory complications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=28
  4499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early death often occurs from cardiac failure or infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=28
  4500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early diagnosis and treatment prevent many complications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=28
  4501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:early lethality in most cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=28
  4502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:echocardiogram and ophthalmologic examination normal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=28
  4503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:eight unrelated patients have been reported (as of september 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=28
  4504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:estimated frequency 1.6 cases/10,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=28
  4505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:estimated incidence 1/20,000 - 1/40,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=28
  4506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:estimated incidence of 1-2 in 10,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=28
  4507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:facial palsy often transient in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=28
  4508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:familial cases are rare and show incomplete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=28
  4509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:fatal before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=28
  4510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:fatigue
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatigue | rel=r_associated | relid=0 | w=28
  4511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:favorable response to intermittent, low-dose steroid therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=28
  4512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:features intermediate between demyelinating cmt and axonal cmt
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=28
  4513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:febrile attacks disappear in adulthood in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=28
  4514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:female carriers are unaffected or show neuropsychiatric features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=28
  4515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:female carriers may be less severely affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=28
  4516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:female carriers may develop mild hearing loss as adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=28
  4517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:females are more often affected
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:females are more often affected | rel=r_associated | relid=0 | w=28
  4518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=28
  4519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=28
  4520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:five patients have been reported (as of june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=28
  4521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:five patients reported (as of march 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=28
  4522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:forty percent of patients die in the first year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=28
  4523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:founder effect in irish traveler population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=28
  4524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:four clinical forms of krabbe disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=28
  4525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:four patients from 3 families have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:four patients from 3 families have been reported (last curated february 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=28
  4527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:fractures can occur in utero, during labor and delivery, or in newborn period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=28
  4529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:frequent neonatal sudden death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=28
  4530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:frequently death in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=28
  4531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=28
  4532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:generally benign disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=28
  4533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:generally static disease course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generally static disease course | rel=r_associated | relid=0 | w=28
  4534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=28
  4535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 145410)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=28
  4536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 159900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=28
  4537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 609192)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=28
  4538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 610168)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=28
  4539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see bscl1, 608594)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=28
  4540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=28
  4541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see psnp1 601104)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=28
  4542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see psnp2 609454)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=28
  4543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see rieg2, 601499)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=28
  4544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=28
  4545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (x-linked form 305100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=28
  4546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=28
  4547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see apmr1 (203650)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=28
  4548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see ekd1 (128200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=28
  4549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see spg5a (270800)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=28
  4550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:gonadal and somatic mosaicism reported in parent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=28
  4551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:good response to fibrinolytic inhibitors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=28
  4552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:group b, found in france and united kingdom, severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=28
  4553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:growth retardation onset in utero
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=28
  4554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:hair loss begins in first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=28
  4555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:headache duration 4-72 hours
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=28
  4556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:hearing loss and hoarseness occur later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=28
  4557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:hematuria may become apparent after respiratory infections (synpharyngitic)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=28
  4558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures | rel=r_associated | relid=0 | w=28
  4559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=28
  4560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:heterozygotes are usually asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=28
  4561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:heterozygous mutation present in 5-7% of the japanese population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=28
  4562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=28
  4563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:high frequency in equatorial africa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=28
  4564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:high frequency seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=28
  4565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:highly variable clinical phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=28
  4566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:highly variable intrafamilial severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=28
  4567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:highly variable organ involvement and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=28
  4568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=28
  4569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:highly variable severity of muscle weakness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=28
  4570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:hyperkeratosis often present at birth but may appear later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=28
  4571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=28
  4572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=28
  4573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence - 1 in 25,000-100,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=28
  4574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence - 1/16,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=28
  4575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence 1 in 50,000-100,000 in western europe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=28
  4576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence 1/100,000 - 1/200,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=28
  4577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 1.5 million births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=28
  4578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 10,000 to 1 in 20,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=28
  4579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 100,000 births in caucasians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=28
  4580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 100,000 to 125,000 at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=28
  4581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 480 among old order amish
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=28
  4582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 500,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=28
  4583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:incidence of 1/100,000 in italy and finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=28
  4584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased frequency in finland
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=28
  4585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased frequency in individuals of asian descent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=28
  4586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased frequency in the faroe islands (carrier 1 in 25)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=28
  4587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased frequency in the finnish population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=28
  4588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=28
  4589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased male to female ratio (7.5:1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=28
  4590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased recurrence risk with parental translocation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=28
  4591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased spontaneous abortions in carrier mothers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=28
  4592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased susceptibility to neisseria infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=28
  4593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:increased tendency to chromosomal nondisjunction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=28
  4594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:individuals develop ability to stand and walk
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=28
  4595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:intermittent exacerbations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=28
  4596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:intracellular accumulation of material may not always be apparent
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=28
  4597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:joint laxity decreases with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=28
  4598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=28
  4599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:laboratory comment:txt:pt:report:nar
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=28
  4600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:late-adult onset (fifth to sixth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=28
  4601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:later onset has been reported (third or fourth decades)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=28
  4602. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:lesions continue to grow until epiphyseal plate closure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=28
  4603. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:lesions grow and spread with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=28
  4604. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:less than 50% penetrance in some families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=28
  4605. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:lethal in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lethal in males | rel=r_associated | relid=0 | w=28
  4606. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:limb malformations are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=28
  4607. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=28
  4608. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=28
  4609. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:liver disease may be the most predominant finding
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=28
  4610. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:loss of independent ambulation in the second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=28
  4611. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:major fetal plasma protein produced by yolk sac and liver
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=28
  4612. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:majority of cases (95%) are sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=28
  4613. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:majority of cases are sporadic, some autosomal dominant families have been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=28
  4614. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:majority of cases in manitoba indians, northeastern manitoba, canada
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=28
  4615. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:male predominance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male predominance | rel=r_associated | relid=0 | w=28
  4616. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:male to female ratio 21:8
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=28
  4617. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:males are more severely affected than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=28
  4618. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=28
  4619. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:many patients lose independent mobility after 25 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=28
  4620. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) | rel=r_associated | relid=0 | w=28
  4621. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:marked phenotypic variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=28
  4622. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:maternal breast milk is protective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=28
  4623. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | rel=r_associated | relid=0 | w=28
  4624. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:may be lethal if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=28
  4625. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:may coexist with autoimmune vitiligo or thyroiditis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=28
  4626. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:may have less severe phenotype than rsts patients with crebbp mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=28
  4627. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:may result in early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may result in early death | rel=r_associated | relid=0 | w=28
  4628. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mean age at onset 57-60 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=28
  4629. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mean age at onset of bone fractures, 24 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=28
  4630. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mean age at onset of migraines is 42 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=28
  4631. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mean age of onset 14-24 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=28
  4632. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mean age of onset 50 to 52 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=28
  4633. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mechanical ventilation may be required
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=28
  4634. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:medial onset of end stage renal disease 13 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=28
  4635. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:median age at diagnosis 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=28
  4636. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | rel=r_associated | relid=0 | w=28
  4637. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:median age of diagnosis - 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=28
  4638. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:median age of onset of leukoplakia - 7 years (range 1-26 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=28
  4639. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:median survival is > 50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=28
  4640. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:medullary thyroid cancer is aggressive and can occur in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=28
  4641. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:microdeletion is approximately 1.5mb in length
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=28
  4642. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | rel=r_associated | relid=0 | w=28
  4643. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=28
  4644. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:more common in ashkenazi jews
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=28
  4645. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mortality approximately 20% in first 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=28
  4646. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most affected patients die in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=28
  4647. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most cases are caused by mutation in the phox2b gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=28
  4648. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most common episodic ataxia syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=28
  4649. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | rel=r_associated | relid=0 | w=28
  4650. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most common inherited giant platelet disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=28
  4651. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most common terminal deletion syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=28
  4652. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most patients die in the neonatal period due to respiratory insufficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=28
  4653. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:most patients show early childhood onset after a period of normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=28
  4654. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:motor neuropathy more prominent than sensory neuropathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=28
  4655. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:mutations show partial penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=28
  4656. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:neonatal severe hyperparathyroidism in homozygotes (239200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=28
  4657. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:neuroendocrine recovery occurs in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=28
  4658. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:neurologic signs last hours to days
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=28
  4659. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=28
  4660. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:newborn period is critical for survival
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=28
  4661. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:no clinical details provided by the authors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=28
  4662. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:no mutations reported in la reunion island patients (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=28
  4663. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:no response to phenobarbital
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=28
  4664. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:nonpenetrance has been observed
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=28
  4665. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:normal alleles contain 6 to 28 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=28
  4666. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:normal cag repeat length is 7 to 32 triplets
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=28
  4667. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:normal sialophorin gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=28
  4668. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:normal sweat electrolytes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=28
  4669. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:nphp shows autosomal recessive inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=28
  4670. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:observed in individuals of bulgarian roma bowlmaker ethnic group
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=28
  4671. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:occurs at age 20-50 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=28
  4672. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:occurs in full-term infants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=28
  4673. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:occurs in women and is triggered by pregnancy or estrogen therapy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=28
  4674. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:old order amish, african american, and french patients have been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=28
  4675. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one 5-generation chinese family reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4676. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one 9-generation family and 1 isolated patient described (last curated march 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=28
  4677. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one consanguineous arab israeli family has been reported (last curated february, 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=28
  4678. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4679. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=28
  4680. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one consanguineous family has been reported (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=28
  4681. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of august 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=28
  4682. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=28
  4683. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of october 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=28
  4684. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated july 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=28
  4685. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family reported (as of november 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=28
  4686. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family reported (last curated may 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=28
  4687. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=28
  4688. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family with 4 affected sibs has been reported (as of april 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=28
  4689. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=28
  4690. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28
  4691. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one korean family has been reported (as of november 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=28
  4692. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=28
  4693. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one of the 2 most common forms of albinism in the world, along with oca2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=28
  4694. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one pakistani family has been reported (last curated september 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=28
  4695. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one pakistani family reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  4696. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one palestinian family has been described (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one palestinian family has been described (last curated april 2014) | rel=r_associated | relid=0 | w=28
  4697. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of august 2011) | rel=r_associated | relid=0 | w=28
  4698. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=28
  4699. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of january 2012) | rel=r_associated | relid=0 | w=28
  4700. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (as of july 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=28
  4701. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one report of mother and son (last curated august 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=28
  4702. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:one swiss family with 19 affected individuals has been described (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=28
  4703. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset <30 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset <30 months | rel=r_associated | relid=0 | w=28
  4704. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset 30-40 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=28
  4705. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset 6-13 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=28
  4706. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset 8-20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=28
  4707. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset around puberty
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset around puberty | rel=r_associated | relid=0 | w=28
  4708. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset at birth or early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=28
  4709. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset at day 1 of life has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=28
  4710. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset between 10 and 20 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=28
  4711. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset between ages 10 and 25 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=28
  4712. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset by 3 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=28
  4713. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset day of life 1-10 in infants fed lactose-containing milk
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=28
  4714. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in adolescence or adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=28
  4715. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in adulthood (third to fourth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=28
  4716. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood (3 to 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=28
  4717. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood (mean age 10 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=28
  4718. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood (range 0.5 to 7 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=28
  4719. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood of blistering and pigmentary changes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=28
  4720. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood or adolescence (range 6 to 15 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=28
  4721. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in childhood or youth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=28
  4722. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in early first decade, although some patients have onset at birth or early in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=28
  4723. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in fifth or sixth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=28
  4724. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in first or second decade (range 4 to 13 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=28
  4725. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in infancy (1-2 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=28
  4726. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in infancy (3 to 7 months)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=28
  4727. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in infancy or first years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=28
  4728. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in late infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=28
  4729. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in lower limbs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=28
  4730. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in males in first to third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=28
  4731. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset in neonatal period or before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=28
  4732. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset may also occur in early infancy, adolescence, or adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=28
  4733. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of ataxia between 1 and 3 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=28
  4734. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of chronic progressive polyneuropathy in late childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=28
  4735. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of disease before 7 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=28
  4736. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of end-stage renal disease 15 to 20 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=28
  4737. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of fractures 4-18 months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=28
  4738. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of gait abnormalities at 8 to 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=28
  4739. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of hearing loss in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=28
  4740. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of insulin resistance may occur in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=28
  4741. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of macrocephaly in the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=28
  4742. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of muscle weakness in early childhood, usually before age 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=28
  4743. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of neurologic disease in early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=28
  4744. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of optic atrophy in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4745. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of parkinsonism in first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=28
  4746. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=28
  4747. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of progressive spastic paraplegia in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=28
  4748. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of renal failure in adulthood (range twenties to fifties)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=28
  4749. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of seizures in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4750. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of spasticity by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=28
  4751. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of spasticity in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=28
  4752. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of symptoms age 5-30
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=28
  4753. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of symptoms in the fourth to sixth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=28
  4754. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of symptoms often associated with nonspecific febrile illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=28
  4755. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of thrombosis by age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=28
  4756. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset of tremor usually before onset of seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=28
  4757. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset precipitated by fasting or illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=28
  4758. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset usually before age 40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=28
  4759. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:onset usually in the neck
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=28
  4760. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:oral supplementation with ubiquinone does not result in major clinical improvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=28
  4761. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:overlap with obsessive-compulsive disorder (ocd, 164230)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=28
  4762. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=28
  4763. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=28
  4764. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:pathogenic alleles contain greater than 41 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=28
  4765. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:pathogenic alleles have 19 to 33 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=28
  4766. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients between 30 and 60 years have discomfort with prolonged standing
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=28
  4767. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients can have multiple seizure types
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=28
  4768. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients may show normal development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=28
  4769. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients need support with walking or are wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=28
  4770. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients often require implantation of a pacemaker
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=28
  4771. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients older than 60 years have severe degenerative arthritis in the feet
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=28
  4772. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | rel=r_associated | relid=0 | w=28
  4773. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=28
  4774. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:patients younger than 30 years complain only that they cannot run fast
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=28
  4775. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:pavm more frequent in hht1 than hht2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=28
  4776. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:peak age of onset in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=28
  4777. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=28
  4778. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=28
  4779. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=28
  4780. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:phenotype may or may not be consistent within a family.
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=28
  4781. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=28
  4782. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap with parkinson disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=28
  4783. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:phenotypic similarities to costello syndrome (218040)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=28
  4784. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=28
  4785. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=28
  4786. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:possible increase of aneuploidy in offspring
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=28
  4787. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:precipitated by fever
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=28
  4788. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:precipitated by general anesthesia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=28
  4789. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:predominantly occurs in young males with a high rate of atopic disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=28
  4790. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prelingual onset in males
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=28
  4791. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:premature death may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:premature death may occur | rel=r_associated | relid=0 | w=28
  4792. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prenatal history of maternal diabetes in 35% of cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=28
  4793. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence much higher in whites than blacks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=28
  4794. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence of 0.6 to 10 per 100,000 individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=28
  4795. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 200,000 to 1 in 800,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=28
  4796. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 7,900 in cameroon
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=28
  4797. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence of 7 in 100,000 live births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=28
  4798. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prevalence of sleep terrors about 3% in children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=28
  4799. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism | rel=r_associated | relid=0 | w=28
  4800. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:prognosis good
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prognosis good | rel=r_associated | relid=0 | w=28
  4801. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=28
  4802. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:ptosis is usually presenting feature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=28
  4803. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:rapidly progressive disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=28
  4804. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:rapidly progressive episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=28
  4805. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:ratio female to male, 19:10 in index family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=28
  4806. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial, viral, and fungal infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=28
  4807. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:regional, racial, and ethnic clustering has been noted
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=28
  4808. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:repeat is unstable if > 52 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=28
  4809. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:reported cases all sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=28
  4810. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:reported in a large hutterite family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=28
  4811. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:resembles pseudo-torch syndrome (251290)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=28
  4812. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:response to benadryl (diphenhydramine)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=28
  4813. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:reticulate hyperpigmentation onset birth - 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=28
  4814. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:retinal hemorrhages usually resolve without sequelae
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=28
  4815. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also autosomal dominant form (160800), which is less common and less severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=28
  4816. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also autosomal recessive sick sinus syndrome (sss1, 608567)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=28
  4817. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=28
  4818. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also chromosome 2q32-q33 deletion syndrome (612313)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=28
  4819. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also cmtx1 (302800) and cmtx2 (302801)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=28
  4820. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also da2b (601680), which is an allelic disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=28
  4821. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also mmaa (251100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also mmaa (251100) | rel=r_associated | relid=0 | w=28
  4822. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:see also x-linked dominant form (300652)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=28
  4823. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizure onset between 3 and 11 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=28
  4824. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures are often refractory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=28
  4825. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures are provoked by immersion in hot or warm water
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=28
  4826. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures are refractory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=28
  4827. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures are refractory to treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=28
  4828. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures easily controlled by medications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=28
  4829. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures may occur upon awakening or at any time during the day
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=28
  4830. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures recur in 33% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=28
  4831. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures remit by age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=28
  4832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seizures usually remit in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=28
  4833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4834. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4835. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4836. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4837. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4838. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4839. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4840. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:seventy percent of cases are stillborn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=28
  4841. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:severe ambulatory restriction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=28
  4842. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:severe epilepsy may lead to early death
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=28
  4843. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:sex ratio of 4-4.5 males to 1 female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=28
  4844. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:short limbs become more apparent during childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=28
  4845. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=28
  4846. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:single mitochondrial dna deletions are found in sporadic kss patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=28
  4847. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:skin manifestations may not be present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=28
  4848. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:somatic mutations occur in adrenal tumor tissue (601639.0001)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=28
  4849. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some families have axonal cmt (cmt2m)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=28
  4850. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients do not manifest renal disease in the first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=28
  4851. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients do not show neurologic abnormalities or dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=28
  4852. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients have milder persistent blistering
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=28
  4853. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients may develop interictal progressive ataxia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=28
  4854. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients may have a milder phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=28
  4855. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients may have isolated cardiac involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=28
  4856. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease | rel=r_associated | relid=0 | w=28
  4857. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:spontaneous bleeding is rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=28
  4858. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:spontaneous resorption (rare)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=28
  4859. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=28
  4860. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:stage ii, rapid developmental regression (onset 1-4 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=28
  4861. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:subset of patients have cytochrome c oxidase deficiency (see 220110)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=28
  4862. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) | rel=r_associated | relid=0 | w=28
  4863. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:subtle personality and behavioral changes are presenting signs
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=28
  4864. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:sudden death due to cardiac arrhythmia may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=28
  4865. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:survival past infancy is rare
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=28
  4866. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:surviving infants develop severe nonbullous ichthyosiform erythroderma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=28
  4867. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms are aggravated by febrile illness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=28
  4868. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms can be prevented by strict dietary restriction
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=28
  4869. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=28
  4870. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms may be precipitated by infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=28
  4871. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms often decrease or remit with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=28
  4872. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms precipitated by exercise and excitement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=28
  4873. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=28
  4874. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms usually last 30-60 minutes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=28
  4875. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:symptoms usually resolve without treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=28
  4876. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:this specific disorder has been described in 1 family (ke)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=28
  4877. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=28
  4878. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:three patients have been reported (as of august 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=28
  4879. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:three types of cystinosis are recognized
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=28
  4880. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28
  4881. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:three unrelated patients have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=28
  4882. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:thyroid gland carcinoma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:thyroid gland carcinoma | rel=r_associated | relid=0 | w=28
  4883. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:treatment with betaine, especially for pyridoxine nonresponders
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=28
  4884. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:treatment with vitamin d and phosphate is effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=28
  4885. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:triggered by exercise, fasting, or other metabolic stresses
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=28
  4886. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) | rel=r_associated | relid=0 | w=28
  4887. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two families have been reported (as of curation date april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=28
  4888. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two families have been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=28
  4889. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two of 6 patients became wheelchair-bound by age 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=28
  4890. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two patients have been reported (as of august 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=28
  4891. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two sibs, a boy and a girl, have been reported (as of july 2009)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=28
  4892. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two subtypes noninflammatory type a and inflammatory type b
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=28
  4893. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two thirds of patients are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=28
  4894. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  4895. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (as of may 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=28
  4896. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated june 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=28
  4897. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=28
  4898. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated october 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=28
  4899. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) | rel=r_associated | relid=0 | w=28
  4900. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4901. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:type 1 - associated with osteogenesis imperfecta (125490)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=28
  4902. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:type iii is intermediate form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=28
  4903. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:uncommon disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=28
  4904. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci | rel=r_associated | relid=0 | w=28
  4905. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:usually affects children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually affects children | rel=r_associated | relid=0 | w=28
  4906. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:usually asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=28
  4907. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:usually lethal in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=28
  4908. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable age at onset, from birth to ninth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=28
  4909. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable age at onset, range from infancy to adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=28
  4910. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable age at onset, ranges from third to fifth decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=28
  4911. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable age of onset (childhood to adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=28
  4912. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable cardiac defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=28
  4913. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable extraneurologic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=28
  4914. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable phenotype within families ranging from woolly hair to hypotrichosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=28
  4915. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable response to acetylcholinesterase inhibitors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28
  4916. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable severity and progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=28
  4917. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:variable survival (some neonatal lethality)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=28
  4918. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:very slow progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:very slow progression | rel=r_associated | relid=0 | w=28
  4919. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:vhl type 2b - renal carcinoma and pheochromocytoma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=28
  4920. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=28
  4921. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | rel=r_associated | relid=0 | w=28
  4922. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:walking delay
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:walking delay | rel=r_associated | relid=0 | w=28
  4923. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:wheelchair use at 20-30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=28
  4924. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:wheelchair-bound after 2 decades of disease onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=28
  4925. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 28 / 0.651 -> en:xy karyotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:xy karyotype | rel=r_associated | relid=0 | w=28
  4926. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:'second wind' phenomenon
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=27
  4927. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=27
  4928. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:21 patients from 17 kindreds reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  4929. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=27
  4930. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:87% patients are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:87% patients are female | rel=r_associated | relid=0 | w=27
  4931. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:94% develop hypertension at 18 years of age or less
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=27
  4932. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=27
  4933. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:a severe infantile variant has been rarely reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=27
  4934. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=27
  4935. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:about 20% of female mutation carriers may show mild muscle weakness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=27
  4936. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:about 8% of female mutation carriers develop dilated cardiomyopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=27
  4937. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:absence seizures show onset between 3.5 and 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=27
  4938. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:accounts for 5-15% of childhood epilepsies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=27
  4939. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:acquired protein c deficiency seen in liver disease, dic, and following surgery
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=27
  4940. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:acute neurologic deterioration after viral illness has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=27
  4941. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:adult onset (18 to 60 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=27
  4942. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:adult onset (after age 35 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=27
  4943. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:adult onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=27
  4944. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:affected infants die in neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=27
  4945. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:age at onset 8 to 55 years (mean 40 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=27
  4946. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:age at onset in males ranges from 3 to 7 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=27
  4947. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:age of onset between 20 to 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=27
  4948. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:aggravated by physical activity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=27
  4949. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:all cases from a remote village, sabinas, in northern mexico
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=27
  4950. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:all cases presumed de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=27
  4951. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:all patients have severe hearing loss 10 to 15 years after onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=27
  4952. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=27
  4953. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=27
  4954. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=27
  4955. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to juvenile nephronophthisis-1 (256100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=27
  4956. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to long qt syndrome-1 (lqt1, 192500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=27
  4957. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to niemann-pick disease type a (257200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=27
  4958. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to paramyotonia congenita (168300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=27
  4959. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=27
  4960. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to spastic paraplegia-3 (spg3, 182600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=27
  4961. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=27
  4962. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | rel=r_associated | relid=0 | w=27
  4963. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=27
  4964. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=27
  4965. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=27
  4966. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | rel=r_associated | relid=0 | w=27
  4967. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=27
  4968. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to hawkinsinuria (140350)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=27
  4969. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to mucolipidosis ii (252500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=27
  4970. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to roberts syndrome (268300)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=27
  4971. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to tyrosinemia, type iii (276720)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=27
  4972. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | rel=r_associated | relid=0 | w=27
  4973. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:an autosomal recessive form has been reported (269720)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=27
  4974. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:anemia, diabetes, and deafness often show onset at different ages
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=27
  4975. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:appear normal at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=27
  4976. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:approximately 80% of cs patients have pten mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=27
  4977. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:arteriovenous malformations can occur throughout the body
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=27
  4978. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:as of 2009, one family has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=27
  4979. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 | rel=r_associated | relid=0 | w=27
  4980. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:associated with myoclonic epilepsy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=27
  4981. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583).
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | rel=r_associated | relid=0 | w=27
  4982. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:asymptomatic if papillary zone is spared
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=27
  4983. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:attack frequency may occur several times per week to once per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=27
  4984. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:autosomal dominant transmission has been rarely reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=27
  4985. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:autosomal recessive and dominant pedigrees described
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=27
  4986. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance can occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=27
  4987. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=27
  4988. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=27
  4989. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:average age at death is 37 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=27
  4990. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:based on one finnish family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=27
  4991. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:behavioral problems including stubbornness and rage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=27
  4992. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:blistering tends to improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=27
  4993. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:blisters are precipitated by minor skin trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=27
  4994. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:body habitus becomes apparent in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=27
  4995. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:bone changes tend to develop after first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=27
  4996. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:both heterozygous and homozygous mutations have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=27
  4997. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | rel=r_associated | relid=0 | w=27
  4998. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=27
  4999. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:carrier frequency in finland 1/40
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=27
  5000. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:carrier males are unaffected except for psychiatric/behavioral abnormalities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=27
  5001. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | rel=r_associated | relid=0 | w=27
  5002. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:changes more marked in hands than feet
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=27
  5003. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:childhood or young adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=27
  5004. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=27
  5005. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance | rel=r_associated | relid=0 | w=27
  5006. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:clinical onset within first 2 years of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=27
  5007. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:clinical overlap with dejerine-sottas syndrome (dss, 145900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=27
  5008. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=27
  5009. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=27
  5010. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:common (up to 7% of the population)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=27
  5011. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=27
  5012. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:complementation groups - complementation group a (classic mliii, 252600)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=27
  5013. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:complete penetrance with variable expressivity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=27
  5014. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=27
  5015. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:contiguous gene deletion syndrome (in most patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=27
  5016. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region | rel=r_associated | relid=0 | w=27
  5017. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:contractures other than plantar are less common and less severe
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=27
  5018. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=27
  5019. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:date ultrasound:date:pt:^patient:qn
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=27
  5020. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death at 13 to 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=27
  5021. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death in infancy in majority of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=27
  5022. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death in untreated children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in untreated children | rel=r_associated | relid=0 | w=27
  5023. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death in utero
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero | rel=r_associated | relid=0 | w=27
  5024. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death in utero or early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=27
  5025. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death may occur in the first decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=27
  5026. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death often secondary to pneumonia or congestive heart failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=27
  5027. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death usually associated with cardiogenic shock preceded by arrhythmia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually associated with cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=27
  5028. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death usually in teenage years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=27
  5029. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death usually in the perinatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=27
  5030. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death usually occurs in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=27
  5031. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death usually within first weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=27
  5032. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:death within first year of life in 25%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=27
  5033. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:deletions in naip gene (600355) found in 18% of sma2 patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=27
  5034. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:despite voluminous steatorrhea, patients' growth and overall state of health is good
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=27
  5035. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:disease complicated by recurrent sepsis in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=27
  5036. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | rel=r_associated | relid=0 | w=27
  5037. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=27
  5038. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=27
  5039. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:dramatic improvement with proper treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=27
  5040. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:duane anomaly is not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=27
  5041. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:dyskinesia may occur in homozygotes (1 reported case)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=27
  5042. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:dysmorphic facial features reported in 1 family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=27
  5043. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:earlier onset is associated with a more severe disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=27
  5044. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early death (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=27
  5045. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early death in early adulthood often associated with diverticulitis and intestinal perforation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=27
  5046. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early death may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death may occur | rel=r_associated | relid=0 | w=27
  5047. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early death, usually before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=27
  5048. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early onset in some patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=27
  5049. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:early-onset severe renal disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=27
  5050. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:encephalopathic episodes associated with increased serum and csf lactate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=27
  5051. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=27
  5052. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:episode frequency is monthly to yearly, and decreases with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=27
  5053. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:episodes are triggered by fatigue, illness, or strenuous exercise
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=27
  5054. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:episodes last 2 days to 1 week
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=27
  5055. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:estimated carrier frequency 1/100
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=27
  5056. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:eye involvement begins at birth, neurologic involvement begins later
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=27
  5057. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=27
  5058. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:fatal in the neonatal period (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=27
  5059. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:fatal without bone marrow transplantation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=27
  5060. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:favorable response to acetylcholinesterase inhibitors
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=27
  5061. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:favorable response to alcohol in about 50%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=27
  5062. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:favorable response to bh4
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=27
  5063. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:favorable response to sodium chloride treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=27
  5064. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=27
  5065. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:female carriers may show mild learning disabilities
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=27
  5066. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:few familial (parent offspring) cases reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=27
  5067. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:first identified in individuals of cypriot origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=27
  5068. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:five unrelated cases have been reported (as of march 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=27
  5069. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:fluoxetine therapy is effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:fluoxetine therapy is effective | rel=r_associated | relid=0 | w=27
  5070. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:foot deformities are present in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=27
  5071. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:four individual patients and 1 saudi family have been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  5072. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:frequency of episodes ranges from several per week to several per year
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=27
  5073. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:gait disturbance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gait disturbance | rel=r_associated | relid=0 | w=27
  5074. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:gene frequency in northwest puerto rico 1 in 18
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=27
  5075. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:generalized dystonia in some cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=27
  5076. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (ccm2 603284, ccm3 603285)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=27
  5077. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=27
  5078. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 161400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=27
  5079. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see cms1a1, 605809)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=27
  5080. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | rel=r_associated | relid=0 | w=27
  5081. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=27
  5082. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see etl2, 608096)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=27
  5083. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see hcfp2, 604185)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=27
  5084. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see npc1, 257220)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=27
  5085. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=27
  5086. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see, e.g., 600795, 105550)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=27
  5087. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=27
  5088. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=27
  5089. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:germline and somatic mutations contribute to this disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=27
  5090. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:glucocorticoid deficiency occurs in mid-childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=27
  5091. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:gonadal mosaicism reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=27
  5092. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:good response to gaba-enhancing medications
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=27
  5093. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:good response to immunotherapy (intravenous igg or plasmapheresis)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=27
  5094. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:good seizure control with medication
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=27
  5095. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=27
  5096. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=27
  5097. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:health insurance plan benefits comment:finding:point in time:^patient:narrative
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=27
  5098. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | rel=r_associated | relid=0 | w=27
  5099. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=27
  5100. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=27
  5101. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers have decreased blood pressure compared to the general population
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=27
  5102. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:high disease prevalence among french-canadians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=27
  5103. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:high frequency in southern india (7% of all epilepsies)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=27
  5104. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:high pain threshold
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high pain threshold | rel=r_associated | relid=0 | w=27
  5105. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:high prevalence in holguin province of cuba
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=27
  5106. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:highly variable phenotype in females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=27
  5107. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) | rel=r_associated | relid=0 | w=27
  5108. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=27
  5109. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=27
  5110. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) | rel=r_associated | relid=0 | w=27
  5111. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 30,000 male births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=27
  5112. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:incidence 1/20,000-1/64,000 male births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=27
  5113. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=27
  5114. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:incidence ranges from 1 in 238,095 to 1 in 300,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=27
  5115. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | rel=r_associated | relid=0 | w=27
  5116. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:increased susceptibility to malignant hyperthermia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=27
  5117. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:independent ambulation is maintained
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=27
  5118. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:infertility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:infertility | rel=r_associated | relid=0 | w=27
  5119. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:intellectual disability is variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=27
  5120. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:isolated finding
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:isolated finding | rel=r_associated | relid=0 | w=27
  5121. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:juvenile-onset (before 15 years of age)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=27
  5122. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:keratitis-ichthyosis-deafness syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=27
  5123. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | rel=r_associated | relid=0 | w=27
  5124. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:l-dopa-induced dyskinesias
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=27
  5125. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:last name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=27
  5126. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:late infantile form has onset between 19 months and 4 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=27
  5127. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:later onset associated with milder severity has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=27
  5128. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:later onset may occur (1 to 11 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=27
  5129. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:later onset with a milder phenotype may also occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=27
  5130. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:left sided involvement occurs more frequently
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=27
  5131. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:leg pain
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:leg pain | rel=r_associated | relid=0 | w=27
  5132. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:lethal in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=27
  5133. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:life-threatening infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=27
  5134. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | rel=r_associated | relid=0 | w=27
  5135. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=27
  5136. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:long headache duration (greater than 12 hours)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=27
  5137. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:low physical performance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:low physical performance | rel=r_associated | relid=0 | w=27
  5138. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:lower limb involvement occurs before upper limb involvement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=27
  5139. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:luton and torrance type differentiated based on histologic findings in cartilage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=27
  5140. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:major fluid shifts may occur in severe cases
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=27
  5141. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:majority of cases from middle eastern countries
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=27
  5142. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:majority of cases sporadic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=27
  5143. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:majority of patients develop symptoms within the first few weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=27
  5144. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:male-to-female ratio, 1.8 to 1
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=27
  5145. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces | rel=r_associated | relid=0 | w=27
  5146. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:many features are present only in an untreated patient
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=27
  5147. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:marked intrafamilial and interfamilial variability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=27
  5148. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:marked phenotypic variability, even within an individual
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=27
  5149. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be fatal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be fatal | rel=r_associated | relid=0 | w=27
  5150. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be fatal in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=27
  5151. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be lethal in infancy if untreated
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=27
  5152. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be precipitated by minor illness (e.g., viral infection, fever)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=27
  5153. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be same disorder as autosomal recessive optic atrophy 3 (258501)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=27
  5154. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may be triggered by increased practice
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=27
  5155. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may manifest as 'ataxic' phenotype without parkinsonian features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=27
  5156. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may not be clinically manifest until middle life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=27
  5157. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:may occur in adults (also in pregnancy)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=27
  5158. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mean age at onset 45 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=27
  5159. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mean age at onset 48 years (range 38 to 64)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=27
  5160. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mean age of onset 20.6 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=27
  5161. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mean age of onset 50.2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=27
  5162. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mean age of onset, 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=27
  5163. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:median age at onset is 21 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=27
  5164. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=27
  5165. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=27
  5166. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mosaic distribution of lesions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=27
  5167. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most affected infants die in the first month of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=27
  5168. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most become wheelchair-bound late in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=27
  5169. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most cases are responsive to steroids
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=27
  5170. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most cases due to de novo mutation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=27
  5171. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most common cancer in men aged 15-40 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=27
  5172. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most patients appear unaffected in the first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=27
  5173. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most patients become wheelchair-bound in later childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=27
  5174. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most patients have adult onset of symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=27
  5175. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:most patients remain ambulatory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=27
  5176. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:motor symptoms are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=27
  5177. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mousy odor
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mousy odor | rel=r_associated | relid=0 | w=27
  5178. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:muscle contractions in infancy occur in response to tactile stimulation or crying
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=27
  5179. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:muscle involvement shows onset at birth or in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=27
  5180. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:muscle weakness occurs only in the presence of hyperthyroidism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=27
  5181. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | rel=r_associated | relid=0 | w=27
  5182. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:myoclonic seizures occur on awakening or within 2 hours of awakening
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=27
  5183. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:neonatal and late-infantile onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=27
  5184. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:neurologic signs onset during adolescence or young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=27
  5185. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:neuropathy becomes apparent in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=27
  5186. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:no features consistent with cystic fibrosis found in these patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=27
  5187. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:no systemic manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=27
  5188. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=27
  5189. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:nonprogressive or slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=27
  5190. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:normal alleles contain up to 44 repeats
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=27
  5191. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:normal physical and neurologic development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:normal physical and neurologic development | rel=r_associated | relid=0 | w=27
  5192. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:not all patients have a myopathy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=27
  5193. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:not all patients have skeletal muscle symptoms or mental retardation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=27
  5194. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:occurs most often between 5 and 15 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=27
  5195. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:occurs most often in developing countries in tropical regions
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=27
  5196. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:ocular abnormalities may be very mild
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=27
  5197. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:oculomotor apraxia is not always present
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=27
  5198. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:often fatal in utero
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=27
  5199. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one brazilian family with 12 affected individuals reported (last curated february 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
  5200. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family has been reported (last curated september 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=27
  5201. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family reported (last curated august 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=27
  5202. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one consanguineous senegalese family has been reported (last curated december 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=27
  5203. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family (4 affected members) has been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  5204. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family had normal cognitive and neurologic development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=27
  5205. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of january 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=27
  5206. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated june 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=27
  5207. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated march 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
  5208. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5209. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=27
  5210. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family with 2 affected brothers has been reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  5211. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=27
  5212. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one french family has been reported (last curated march 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=27
  5213. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one highly consanguineous family has been reported (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one highly consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=27
  5214. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one pakistani family has been reported (last curated october 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=27
  5215. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient described (last curated december 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient described (last curated december 2013) | rel=r_associated | relid=0 | w=27
  5216. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (as of sept 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=27
  5217. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=27
  5218. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient reported with col3a1 mutation (120180.0020)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=27
  5219. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient with episodic ataxia and later onset has been reported (as of june 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=27
  5220. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one patient with limited clinical information has been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27
  5221. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:one report of brother and sister from nonconsanguineous parents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=27
  5222. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset 13 to 63 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=27
  5223. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset age 32 to 45 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=27
  5224. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset at 2 to 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=27
  5225. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset at 4 to 9 weeks of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=27
  5226. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset at 6-9 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=27
  5227. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset at birth or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=27
  5228. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset before age 20
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=27
  5229. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 13 to 37 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=27
  5230. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 2 to 20 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=27
  5231. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 3 and 6 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=27
  5232. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 5 to 28 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=27
  5233. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 6 and 16 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=27
  5234. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between 8 and 30 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=27
  5235. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset between ages 5 and 15 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=27
  5236. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=27
  5237. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in childhood or early adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=27
  5238. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in early childhood (age 3)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=27
  5239. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in early childhood (infancy to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=27
  5240. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in females ranges from third to seventh decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=27
  5241. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in first 8 weeks of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=27
  5242. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=27
  5243. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in first weeks to months of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=27
  5244. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in fourth and fifth decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=27
  5245. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in infancy of acute hypoglycemic episodes
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=27
  5246. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in infancy or childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=27
  5247. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in late twenties to thirties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=27
  5248. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset in the first hours or days of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=27
  5249. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=27
  5250. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of acne in adolescence, persists into adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=27
  5251. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of bleeding in infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=27
  5252. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of bone disease in second decade (range 18-44 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=27
  5253. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of deafness in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=27
  5254. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of disease 3-8 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=27
  5255. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier | rel=r_associated | relid=0 | w=27
  5256. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of febrile seizures typically between 6 months and 6 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=27
  5257. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of fracture usually when child begins to walk
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=27
  5258. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in late childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=27
  5259. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=27
  5260. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of hematologic or cns tumors in the first or second decades of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=27
  5261. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of motor disturbances in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=27
  5262. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of osteoarthritis in teens to early adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=27
  5263. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of palmoplantar hyperkeratosis 7-8 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=27
  5264. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of seizures at 2-8 days of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=27
  5265. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of skin lesions at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=27
  5266. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of spastic paraplegia in first year of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=27
  5267. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in fifth decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=27
  5268. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset of visual loss in childhood (around age 5 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=27
  5269. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset ranges from early childhood to adulthood (usually before age 15)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=27
  5270. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset ranges from first to third decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=27
  5271. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually at 2 to 6 months of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=27
  5272. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually at birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=27
  5273. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually before age 10 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=27
  5274. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually between 30 and 50 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=27
  5275. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in adulthood although childhood onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=27
  5276. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=27
  5277. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in childhood (range 17 months to 39 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=27
  5278. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in first or second decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=27
  5279. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in first to third decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=27
  5280. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in infancy although later onset may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=27
  5281. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in infancy or early childhood (9 months to 6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=27
  5282. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in second decade (may occur earlier)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=27
  5283. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in the neonatal period although later onset has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=27
  5284. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset usually in the third decade (range 11 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=27
  5285. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:onset within the first decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=27
  5286. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:ossification evident 2-8 months following swelling
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=27
  5287. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:pain most commonly affects the trunk, extremities, pelvic region, buttocks
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=27
  5288. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients are often asymptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=27
  5289. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients are often of mediterranean origin
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=27
  5290. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients develop aortic dissection with little or no aortic enlargement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=27
  5291. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients exhibit no signs of ocular or cutaneous albinism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=27
  5292. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients have a distinctive shallow u-shaped audiogram
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=27
  5293. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients may become totally dependent for all activities of daily living
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=27
  5294. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:patients retain ambulation even after long disease course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=27
  5295. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:peak age of onset in second decade (range childhood to 76 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=27
  5296. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | rel=r_associated | relid=0 | w=27
  5297. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:phenotypic heterogeneity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=27
  5298. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | rel=r_associated | relid=0 | w=27
  5299. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:polyps occur in teens
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=27
  5300. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:poor response to acetylcholinesterase inhibitors or cholinergic agents
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=27
  5301. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:precipitated by febrile illness and fasting
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=27
  5302. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:precipitated by mechanical compression or pressure on nerve
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=27
  5303. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:premature aging syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=27
  5304. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prenatal onset or onset in infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=27
  5305. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | rel=r_associated | relid=0 | w=27
  5306. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:presumed autosomal dominant with incomplete penetrance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=27
  5307. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence in finland is 1 in 25,000
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=27
  5308. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence in the finnish population of 5.8 per million
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=27
  5309. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 28,000 caucasians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=27
  5310. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 300,000 in quebec
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=27
  5311. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 40,000 among caucasians
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=27
  5312. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence of 2-7% in english-speaking preschool children
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=27
  5313. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:prevalence of sleepwalking about 3% in adults
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=27
  5314. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:progressive renal disorder
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=27
  5315. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:protein s deficiency is found in 2-3% of patients with thromboembolism
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=27
  5316. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:rapidly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=27
  5317. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:rare spontaneous improvement occurs (8%)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=27
  5318. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:reduced fertility
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced fertility | rel=r_associated | relid=0 | w=27
  5319. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:reduced fetal movement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=27
  5320. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=27
  5321. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:relationship of rare neuropsychiatric signs to histidinemia is unclear
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=27
  5322. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=27
  5323. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | rel=r_associated | relid=0 | w=27
  5324. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:risk of sudden death due to cardiac defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=27
  5325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) | rel=r_associated | relid=0 | w=27
  5326. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:secondary hemorrhage
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=27
  5327. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:secondary prevention, avoid smoking, alcohol, and oxidants
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=27
  5328. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see (608328) for a phenotypically similar autosomal dominant form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=27
  5329. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see 607731 for an autosomal recessive form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=27
  5330. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see 608358 for an autosomal dominant form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see 608358 for an autosomal dominant form | rel=r_associated | relid=0 | w=27
  5331. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also autosomal recessive robinow syndrome (268310)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=27
  5332. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also congenital stiff person syndrome (149400)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=27
  5333. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also dominant deb (131750), an allelic disorder with a less severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=27
  5334. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also erythrocytosis 1 (ecyt1, 133100)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=27
  5335. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also french-canadian type of leigh syndrome (220111)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=27
  5336. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=27
  5337. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also infantile (600649) and late-onset (255110) cpt ii deficiency
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=27
  5338. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | rel=r_associated | relid=0 | w=27
  5339. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also junctional eb with pyloric atresia (226730)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=27
  5340. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also lethal neonatal (608836) and adult forms (255110)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=27
  5341. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also pachyonychia congenita, type 3 (pc1, 167200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=27
  5342. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see also pseudopseudohypoparathyroidism (612463)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=27
  5343. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see cmt4a (214400) for autosomal recessive demyelinating forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=27
  5344. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:see entry 104300 for general information on alzheimer disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=27
  5345. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:segmental distribution often affecting 1 limb
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=27
  5346. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:seizures and dystonia peak during childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=27
  5347. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:seizures may remit in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=27
  5348. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:seizures, recurrent, refractory
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=27
  5349. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5350. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5351. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5352. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5353. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5354. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5355. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5356. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5357. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5358. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5359. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5360. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:seventy percent of cases have associated anomalies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=27
  5361. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:severe form with onset at 3 to 4 months of age and severe developmental delay
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=27
  5362. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:severe infantile form presents before 6 months
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=27
  5363. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:severity of phenotype may vary with x-inactivation patterns and/or mutation type
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=27
  5364. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:short survival (less than 10 years after onset)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=27
  5365. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:six patients reported (last curated march 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
  5366. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:skin lesions are fully penetrant by second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=27
  5367. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:skin lesions improve in the summer
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=27
  5368. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:skin lesions worsen with heat or sun exposure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=27
  5369. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:sleep terrors usually remit during adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=27
  5370. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:sleepwalking usually remits in adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=27
  5371. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:slightly increased female:male ratio (1.4:1 to 2:1)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=27
  5372. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:slowly or nonprogressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=27
  5373. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:slowly progressive or nonprogressive course
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=27
  5374. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some affected individuals have normal subsequent development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=27
  5375. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some features may be variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some features may be variable | rel=r_associated | relid=0 | w=27
  5376. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some heterozygous cpt2 mutation carriers may be symptomatic
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=27
  5377. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=27
  5378. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients carry heterozygous mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=27
  5379. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients do not achieve independent ambulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=27
  5380. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients do not have bone disease
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=27
  5381. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients may become wheelchair-bound
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=27
  5382. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients show improvement during summer or with fever
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=27
  5383. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some patients show onset in childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=27
  5384. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=27
  5385. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:splenectomy increases thrombotic risk in these patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=27
  5386. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:spontaneous resolution by 12 months of age with no recurrence later in life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=27
  5387. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:stage iv, late motor deterioration (when ambulation ceases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=27
  5388. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:stillbirth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:stillbirth | rel=r_associated | relid=0 | w=27
  5389. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:subclavian artery supply disruption in embryogenesis has been suggested as etiology
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=27
  5390. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:sudden infant death may occur
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=27
  5391. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=27
  5392. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=27
  5393. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:symptoms improve following sleep
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=27
  5394. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:symptoms may be exacerbated by pregnancy or trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=27
  5395. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:symptoms tend to improve with age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=27
  5396. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:symptoms vary from asymptomatic patients to patients with metabolic acidosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=27
  5397. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=27
  5398. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three affected sibs have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=27
  5399. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three families have been reported (last curated august 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=27
  5400. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three families have been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5401. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three main clinical forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=27
  5402. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three males in 1 family have been reported (last curated august 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=27
  5403. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=27
  5404. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated november 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5405. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:tooth agenesis ranges from 1 missing tooth to marked oligodontia
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=27
  5406. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:torso and upper body remain normal in shape and contour
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=27
  5407. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:trauma, anxiety, and/or stress can precipitate or aggravate edema
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=27
  5408. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:trauma, im injection, surgery can be foci of ectopic ossification
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=27
  5409. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:tremor is aggravated by low glucose or light
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=27
  5410. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:triggered by minor head trauma
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=27
  5411. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:triggers are variable, even within a family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=27
  5412. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:truncating mutations in crebbp found in 10% of patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=27
  5413. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two autosomal dominant families have been reported (as of may 2011)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=27
  5414. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two brothers have been reported (as of february 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two brothers have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  5415. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=27
  5416. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two consanguineous turkish families have been reported (last curated january 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27
  5417. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two families have been reported (as of may 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families have been reported (as of may 2012) | rel=r_associated | relid=0 | w=27
  5418. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two families of french-canadian origin have been reported (last curated december 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
  5419. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two main presentations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two main presentations | rel=r_associated | relid=0 | w=27
  5420. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two patients from 1 italian family have been reported (as of april 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=27
  5421. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two patients with point mutations in rad21 have been reported (last curated july 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  5422. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two types - severe infantile form (type i) and milder form (type ii)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=27
  5423. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated chinese families have been reported (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27
  5424. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated june 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=27
  5425. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated october 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27
  5426. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated april 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=27
  5427. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated december 2010)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=27
  5428. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:two unrelated patients with confirmed mutations have been reported (as of january 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=27
  5429. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:type ii is adult-onset (kanzaki disease, 609242)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=27
  5430. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:types of psoriasis include - plaque, guttate, erythrodermic, pustular
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=27
  5431. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:typical onset in adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=27
  5432. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | rel=r_associated | relid=0 | w=27
  5433. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | rel=r_associated | relid=0 | w=27
  5434. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:usually follows a static course or is slowly progressive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=27
  5435. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:usually occurs in young adulthood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=27
  5436. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=27
  5437. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:usually sporadic, few cases described with autosomal dominant inheritance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=27
  5438. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range 2 to 59 years, mean 24 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=27
  5439. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range teens to late adult)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=27
  5440. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable age at onset, most often in second decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=27
  5441. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable age at onset, mostly in third decade (range teenage years to fourth decade)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=27
  5442. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable age of onset (infancy to 63 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=27
  5443. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable expression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable expression | rel=r_associated | relid=0 | w=27
  5444. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable features | rel=r_associated | relid=0 | w=27
  5445. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable phenotype and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=27
  5446. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variable severity of brain malformations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=27
  5447. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:variably expressivity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variably expressivity | rel=r_associated | relid=0 | w=27
  5448. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:virtually all patients with this condition are female
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=27
  5449. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:weakness during pregnancy in affected females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:weakness during pregnancy in affected females | rel=r_associated | relid=0 | w=27
  5450. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:wide phenotypic variability and severity
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=27
  5451. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:wide range of onset from childhood to adult (10 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=27
  5452. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:wide range of severity between affected members of the same family
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=27
  5453. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 27 / 0.628 -> en:young adult onset (range 13 to 50 years)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=27
  5454. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 26 / 0.605 -> en:congenital abnormality
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=26
  5455. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 26 / 0.605 -> en:onset in early infancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=26
  5456. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 25 / 0.581 -> en:usually
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:usually | rel=r_associated | relid=0 | w=25
  5457. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 25 / 0.581 -> enfance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=enfance | rel=r_associated | relid=0 | w=25
  5458. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 25 / 0.581 -> faiblesse
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=faiblesse | rel=r_associated | relid=0 | w=25
  5459. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 22 / 0.512 -> anomalie congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=anomalie congénitale | rel=r_associated | relid=0 | w=22
  5460. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> algie articulaire
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=algie articulaire | rel=r_associated | relid=0 | w=20
  5461. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> anomalie du développement
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=anomalie du développement | rel=r_associated | relid=0 | w=20
  5462. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> arthralgie
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=arthralgie | rel=r_associated | relid=0 | w=20
  5463. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> déficience congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=déficience congénitale | rel=r_associated | relid=0 | w=20
  5464. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> déformation congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=déformation congénitale | rel=r_associated | relid=0 | w=20
  5465. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> difformité congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=difformité congénitale | rel=r_associated | relid=0 | w=20
  5466. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> douleur articulaire
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=douleur articulaire | rel=r_associated | relid=0 | w=20
  5467. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> douleur dans une articulation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=douleur dans une articulation | rel=r_associated | relid=0 | w=20
  5468. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=20
  5469. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:affected individuals have a relatively mild ichthyosis phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=20
  5470. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=20
  5471. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:age of onset between 5 and 10 years of age
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=20
  5472. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:age of onset varies ranging from 3 weeks to 22 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=20
  5473. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:asymptomatic patients may show changes on sd-oct
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=20
  5474. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:autoimmune features are variable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=20
  5475. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5476. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on one jordanian family (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5477. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on one large dutch family (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5478. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on one sib pair each in their seventies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=20
  5479. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on report of 2 individuals (last curated november 2013)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=20
  5480. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:based on report of 4 patients from 1 family (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5481. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:birth defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:birth defect | rel=r_associated | relid=0 | w=20
  5482. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:both mutations occurred de novo
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=20
  5483. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=20
  5484. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:cardiac examination is usually unremarkable
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=20
  5485. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:cardiomyopathy is not a feature
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=20
  5486. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:carrier females may have mild intellectual disability
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=20
  5487. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:clinical variability, both pure and complicated forms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=20
  5488. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:congenital anomaly
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital anomaly | rel=r_associated | relid=0 | w=20
  5489. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:congenital defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital defect | rel=r_associated | relid=0 | w=20
  5490. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:congenital malformation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:congenital malformation | rel=r_associated | relid=0 | w=20
  5491. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:developmental anomaly
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:developmental anomaly | rel=r_associated | relid=0 | w=20
  5492. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:developmental fault
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:developmental fault | rel=r_associated | relid=0 | w=20
  5493. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:disease shows slow progression
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=20
  5494. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:exacerbated by stress
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=20
  5495. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:family a had a severe multisystem disorder resulting in death before age 2 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=20
  5496. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:first fracture in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=20
  5497. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:four patients from 3 families have been reported (last curated march 2016)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=20
  5498. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:four unrelated families have been reported (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5499. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:four unrelated families have been reported (last curated september 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
  5500. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:genetic heterogeneity (see mcc1 deficiency 210200)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=20
  5501. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:hearing loss occurs later if at all
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=20
  5502. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:heterozygous females may have situs inversus or other midline defects
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=20
  5503. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:high frequency hearing loss progresses to include all frequencies
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=20
  5504. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:highly variable severity and features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=20
  5505. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:incomplete penetrance in some families
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=20
  5506. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:increased susceptibility to multiple carcinomas
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=20
  5507. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:inflammatory bowel disease may develop in childhood or adolescence
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=20
  5508. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=20
  5509. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | rel=r_associated | relid=0 | w=20
  5510. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:intrafamilial variability in number of missing teeth
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=20
  5511. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:joint pain
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:joint pain | rel=r_associated | relid=0 | w=20
  5512. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:ketogenic diet may be effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=20
  5513. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:late-adult onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:late-adult onset | rel=r_associated | relid=0 | w=20
  5514. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:later onset of neurologic features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=20
  5515. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:lethal in utero or perinatal lethal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=20
  5516. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:major physical defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:major physical defect | rel=r_associated | relid=0 | w=20
  5517. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:males tend to have earlier onset than females
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=20
  5518. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:marked intrafamilial variability of clinical features
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=20
  5519. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:metabolic encephalomyopathic crises often triggered by infection
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=20
  5520. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:most patients become wheelchair-bound in the second or third decades
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=20
  5521. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:nine patients have been reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5522. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:no consistent dysmorphic facial phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
  5523. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:no extraocular findings
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=20
  5524. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20
  5525. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:one family and 2 unrelated patients have been reported (last curated december 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
  5526. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:one lebanese family has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=20
  5527. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:one patient has been reported (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5528. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:one patient reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5529. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset in first decade (as early as infancy in some)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=20
  5530. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset in first decade after normal early development
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=20
  5531. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset of night blindness varies among patients from early childhood to mid thirties
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=20
  5532. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset of overgrowth in the first year of life (in most cases)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=20
  5533. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset of symptoms in early childhood in most patients
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=20
  5534. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:onset of visual dysfunction in early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=20
  5535. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:osteoglophonic, derived from greek meaning hollowed out
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
  5536. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | rel=r_associated | relid=0 | w=20
  5537. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=20
  5538. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:patients may die in infancy or childhood due to respiratory failure
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=20
  5539. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=20
  5540. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:penetrance estimated to be 80%
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=20
  5541. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=20
  5542. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:physical defect
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:physical defect | rel=r_associated | relid=0 | w=20
  5543. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:pigmentation not always butterfly-shaped
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=20
  5544. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:polyhydramnion
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:polyhydramnion | rel=r_associated | relid=0 | w=20
  5545. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:precipitation by pregnancy
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=20
  5546. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:quinidine therapy may be effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=20
  5547. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:recurrent episodes of liver failure during intercurrent infections
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=20
  5548. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:relatively mild phenotype
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=20
  5549. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:retinal holes were present in an asymptomatic female carrier
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=20
  5550. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:retinitis pigmentosa
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
  5551. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:seizures remit spontaneously by age 5 years
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=20
  5552. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:skewed x-inactivation, with complete skewing in some individuals
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=20
  5553. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:some patients have onset in second decade of life
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=20
  5554. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:some patients may show normal early development before seizure onset
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=20
  5555. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:Stokes-Adams syndrome
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:Stokes-Adams syndrome | rel=r_associated | relid=0 | w=20
  5556. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:surviving males are postzygotic mosaic for ebp mutations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=20
  5557. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:symptoms present from infancy or early childhood
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=20
  5558. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:teratosis
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:teratosis | rel=r_associated | relid=0 | w=20
  5559. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:therapy is placement of implantable cardioverter defibrillator (icd)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=20
  5560. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:three fetuses from 1 family have been reported (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5561. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5562. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:three unrelated families have been reported (last curated october 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
  5563. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:three unrelated patients have been reported (last curated december 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
  5564. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:three unrelated patients have been reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5565. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:treatment with sulfonylurea can be effective
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=20
  5566. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
  5567. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=20
  5568. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5569. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two sibs have been reported (last curated november 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=20
  5570. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
  5571. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two unrelated consanguineous families have been reported (last curated july 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5572. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5573. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated june 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
  5574. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated october 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
  5575. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:two unrelated patients have been reported (last curated august 2015)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5576. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:variable severity of clinical and radiologic manifestations
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=20
  5577. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> en:weakness during pregnancy in some affected females has been reported
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=20
  5578. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> hydramnios
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=hydramnios | rel=r_associated | relid=0 | w=20
  5579. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> létal
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=létal | rel=r_associated | relid=0 | w=20
  5580. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> létale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=létale | rel=r_associated | relid=0 | w=20
  5581. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> maladie congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=maladie congénitale | rel=r_associated | relid=0 | w=20
  5582. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> maladie opportuniste
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=maladie opportuniste | rel=r_associated | relid=0 | w=20
  5583. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> malformation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=malformation | rel=r_associated | relid=0 | w=20
  5584. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> malformation congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=malformation congénitale | rel=r_associated | relid=0 | w=20
  5585. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> mort du nouveau-né
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=mort du nouveau-né | rel=r_associated | relid=0 | w=20
  5586. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> mort néonatale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=mort néonatale | rel=r_associated | relid=0 | w=20
  5587. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> pathologie congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=pathologie congénitale | rel=r_associated | relid=0 | w=20
  5588. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> polyhydramnios
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=polyhydramnios | rel=r_associated | relid=0 | w=20
  5589. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> présentation du siège
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=présentation du siège | rel=r_associated | relid=0 | w=20
  5590. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire | rel=r_associated | relid=0 | w=20
  5591. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire d'apparition tardive
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
  5592. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | rel=r_associated | relid=0 | w=20
  5593. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire liée à la périphérine | rel=r_associated | relid=0 | w=20
  5594. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine (pro219leu)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire liée à la périphérine (pro219leu) | rel=r_associated | relid=0 | w=20
  5595. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire sénile
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire sénile | rel=r_associated | relid=0 | w=20
  5596. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire, surdité, retard mental, et hypogonadisme
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
  5597. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> septicémie du nouveau-né
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=septicémie du nouveau-né | rel=r_associated | relid=0 | w=20
  5598. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> septicémie néonatale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=septicémie néonatale | rel=r_associated | relid=0 | w=20
  5599. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> tare congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=tare congénitale | rel=r_associated | relid=0 | w=20
  5600. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> une anomalie congénitale
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=une anomalie congénitale | rel=r_associated | relid=0 | w=20
  5601. en:usually symptomatic in adulthood with history of weakness since infancy or childhood -- r_associated #0: 20 / 0.465 -> vice de conformation
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=vice de conformation | rel=r_associated | relid=0 | w=20
≈ 5660 relations entrantes

  1. anomalie congénitale --- r_associated #0: 334 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=anomalie congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=334
  2. en:congenital abnormality --- r_associated #0: 332 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital abnormality | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=332
  3. malformation congénitale --- r_associated #0: 311 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=311
  4. en:congenital defect --- r_associated #0: 310 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=310
  5. en:congenital anomaly --- r_associated #0: 309 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital anomaly | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=309
  6. déformation congénitale --- r_associated #0: 286 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=déformation congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=286
  7. déficience congénitale --- r_associated #0: 275 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=déficience congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=275
  8. septicémie du nouveau-né --- r_associated #0: 221 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=septicémie du nouveau-né | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=221
  9. septicémie néonatale --- r_associated #0: 220 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=septicémie néonatale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=220
  10. en:neonatal sepsis --- r_associated #0: 207 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal sepsis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=207
  11. maladie congénitale --- r_associated #0: 202 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=maladie congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=202
  12. difformité congénitale --- r_associated #0: 195 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=difformité congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=195
  13. pathologie congénitale --- r_associated #0: 195 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=pathologie congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=195
  14. en:arthralgia --- r_associated #0: 152 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:arthralgia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=152
  15. algie articulaire --- r_associated #0: 150 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=algie articulaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=150
  16. douleur dans une articulation --- r_associated #0: 150 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=douleur dans une articulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=150
  17. arthralgie --- r_associated #0: 145 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=arthralgie | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=145
  18. douleur articulaire --- r_associated #0: 145 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=douleur articulaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=145
  19. mort du nouveau-né --- r_associated #0: 141 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=mort du nouveau-né | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=141
  20. mort néonatale --- r_associated #0: 140 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=mort néonatale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=140
  21. en:neonatal death --- r_associated #0: 135 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=135
  22. en:congenital malformation --- r_associated #0: 130 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital malformation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=130
  23. en:birth defect --- r_associated #0: 120 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:birth defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=120
  24. en:joint pain --- r_associated #0: 90 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:joint pain | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=90
  25. tare congénitale --- r_associated #0: 80 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=tare congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=80
  26. vice de conformation --- r_associated #0: 53 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=vice de conformation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=53
  27. en:teratosis --- r_associated #0: 48 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:teratosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=48
  28. en:major physical defect --- r_associated #0: 46 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:major physical defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=46
  29. rétinite pigmentaire d'apparition tardive --- r_associated #0: 45 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire d'apparition tardive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=45
  30. en:stokes-adams syndrome --- r_associated #0: 44 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stokes-adams syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=44
  31. en:Stokes-Adams syndrome --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:Stokes-Adams syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  32. en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  33. en:heterozygotes are not affected --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes are not affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  34. en:majority of children die between 6 months and 5 yrs --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of children die between 6 months and 5 yrs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  35. en:many adults with typical form remain ambulatory --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many adults with typical form remain ambulatory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  36. en:may not be clinically manifest until middle life --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may not be clinically manifest until middle life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  37. en:no situs inversus --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no situs inversus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  38. en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 43 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=43
  39. en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  40. en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  41. en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  42. en:good response to steroid treatment --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to steroid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  43. en:incidence of 1 in 1.5 million births --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 1.5 million births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  44. en:late-adult onset --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  45. en:lesions apparent at birth --- r_associated #0: 42 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions apparent at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=42
  46. anomalie du développement --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=anomalie du développement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  47. en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  48. en:contractures other than plantar are less common and less severe --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contractures other than plantar are less common and less severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  49. en:death in the first years of life --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in the first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  50. en:may result in early death from severe diarrhea --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may result in early death from severe diarrhea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  51. en:physical defect --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:physical defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  52. en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  53. présentation du siège --- r_associated #0: 41 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=présentation du siège | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=41
  54. en:autoimmune features are variable --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autoimmune features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  55. en:blisters are precipitated by minor skin trauma --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blisters are precipitated by minor skin trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  56. en:child often can sit unsupported but never ambulates --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:child often can sit unsupported but never ambulates | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  57. en:majority of cases are male --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases are male | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  58. en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  59. en:many features are present only in an untreated patient --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many features are present only in an untreated patient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  60. en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  61. en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  62. en:variable age at onset, first to second decades --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, first to second decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  63. en:visual impairment is present at birth and is progressive --- r_associated #0: 40 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visual impairment is present at birth and is progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=40
  64. en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  65. en:compound heterozygosity common --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:compound heterozygosity common | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  66. en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  67. en:icelandic families --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:icelandic families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  68. en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  69. en:increased risk of early death --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  70. en:may be progressive --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  71. en:six patients have been reported (as of october 2011) --- r_associated #0: 39 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients have been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=39
  72. en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  73. en:clinical variability, both pure and complicated forms --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical variability, both pure and complicated forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  74. en:clonidine can alleviate hyperhidrosis --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clonidine can alleviate hyperhidrosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  75. en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  76. en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  77. en:mean age at onset 28 years --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 28 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  78. en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  79. en:phenotypic variation (may affect language expression, reception, and/or articulation) --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  80. en:poor response to l-dopa --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to l-dopa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  81. en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  82. en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 38 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:weakness during pregnancy in some affected females has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=38
  83. en:average age at onset between 40 and 50 years --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset between 40 and 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  84. en:breech presentation --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:breech presentation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  85. en:earlier onset is associated with more rapid progression --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset is associated with more rapid progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  86. en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  87. en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  88. en:internal organ rupture may occur --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:internal organ rupture may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  89. en:joint laxity decreases with age --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:joint laxity decreases with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  90. en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  91. en:many cases are asymptomatic --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  92. en:multiple prenatal fractures --- r_associated #0: 37 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple prenatal fractures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=37
  93. en:death before age 40 --- r_associated #0: 36 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death before age 40 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=36
  94. en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 36 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver symptoms improve with age and disappear after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=36
  95. en:possible x-linked dominant inheritance --- r_associated #0: 36 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible x-linked dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=36
  96. en:prevalent among the amish --- r_associated #0: 36 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent among the amish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=36
  97. en:single umbilical artery --- r_associated #0: 36 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:single umbilical artery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=36
  98. en:(3) adult nonnephropathic (219750) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(3) adult nonnephropathic (219750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  99. en:20% die before age one (usually secondary to renal or laryngeal defects) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  100. en:age of onset ranges from 1 to 47 years --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset ranges from 1 to 47 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  101. en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  102. en:associated with hemodialysis --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with hemodialysis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  103. en:ataxia is nonprogressive --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ataxia is nonprogressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  104. en:average onset 6-10 months (range 3-24) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average onset 6-10 months (range 3-24) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  105. en:blistering may worsen during the summer --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blistering may worsen during the summer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  106. en:both mutations occurred de novo --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both mutations occurred de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  107. en:death in infancy in 2 patients --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy in 2 patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  108. en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  109. en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  110. en:death usually in childhood --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  111. en:death usually in newborn period or infancy --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in newborn period or infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  112. en:deposits may recur in graft after corneal transplantation --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deposits may recur in graft after corneal transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  113. en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  114. en:early death (in some patients) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  115. en:early death may occur --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  116. en:episodes last from several hours to days --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes last from several hours to days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  117. en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  118. en:full recovery after attacks --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:full recovery after attacks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  119. en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gonadal and somatic mosaicism reported in parent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  120. en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  121. en:high frequencies affected before low frequencies --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequencies affected before low frequencies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  122. en:immunologic defects are variable --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:immunologic defects are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  123. en:in general, men have more severe disease than women --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in general, men have more severe disease than women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  124. en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  125. en:incidence 5-50 per million (children) and 10-40 per million (adults) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  126. en:incidence of 1 in 25,000 livebirths --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 25,000 livebirths | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  127. en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  128. en:increased recurrence risk with parental translocation --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased recurrence risk with parental translocation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  129. en:infantile onset --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  130. en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  131. en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  132. en:intrafamilial variability in degree of hypotrichosis --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  133. en:intrafamilial variability in severity of hypothyroidism --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  134. en:later onset has been reported --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  135. en:lesions are present at birth or become apparent in infancy --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions are present at birth or become apparent in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  136. en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  137. en:lethal in males --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lethal in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  138. en:long headache duration (greater than 12 hours) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:long headache duration (greater than 12 hours) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  139. en:lower limb weakness is presenting feature --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lower limb weakness is presenting feature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  140. en:madelung deformity more frequent and more severe in females --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:madelung deformity more frequent and more severe in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  141. en:majority of cases sporadic --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  142. en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  143. en:male to female ratio 4:1 --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male to female ratio 4:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  144. en:males are most severely affected, but females can also be affected --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males are most severely affected, but females can also be affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  145. en:many cases due to de novo mutation --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases due to de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  146. en:may be fatal in infancy --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be fatal in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  147. en:may be lethal in the neonatal period --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be lethal in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  148. en:may occur in adults (also in pregnancy) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may occur in adults (also in pregnancy) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  149. en:mean age at onset 33 years (range 20-60) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 33 years (range 20-60) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  150. en:mean age at onset is 13 years (range 6 to 43) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  151. en:mean age of diagnosis of renal cell carcinoma is 46 years --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  152. en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  153. en:median age at diagnosis, 59 years --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age at diagnosis, 59 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  154. en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  155. en:median survival is > 50 years --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median survival is > 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  156. en:midline defects --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:midline defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  157. en:sensorineural hearing loss may be presenting feature --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sensorineural hearing loss may be presenting feature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  158. en:short survival (less than 10 years after onset) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:short survival (less than 10 years after onset) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  159. en:skeletal and facial features are variable --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skeletal and facial features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  160. en:some patients have onset in second decade of life --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have onset in second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  161. en:some patients have resolution of symptoms in first year of life --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have resolution of symptoms in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  162. en:some patients may lose independent ambulation --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may lose independent ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  163. en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 35 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=35
  164. en:adult onset from second to seventh decade --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset from second to seventh decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  165. en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  166. en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  167. en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic patients may show changes on sd-oct | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  168. en:based on one jordanian family (last curated august 2015) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one jordanian family (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  169. en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  170. en:cardiomyopathy is not a feature --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiomyopathy is not a feature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  171. en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  172. en:death in utero or in early infancy is common --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero or in early infancy is common | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  173. en:distinct from pseudopili annulati (613241) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct from pseudopili annulati (613241) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  174. en:dysmorphic facial features reported in 1 family --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic facial features reported in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  175. en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  176. en:facial dysmorphic features are mild --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial dysmorphic features are mild | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  177. en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  178. en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  179. en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  180. en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency of levodopa-induced dyskinesias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  181. en:highly variable frequency and duration of episodes --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable frequency and duration of episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  182. en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  183. en:highly variable severity and features --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable severity and features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  184. en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  185. en:incidence - 1/16,000 live births --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence - 1/16,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  186. en:initially normal rod responses may become significantly reduced at older age --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  187. en:intrafamilial phenotypic variation may occur --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial phenotypic variation may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  188. en:joint symptoms begin in third or fourth decade --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:joint symptoms begin in third or fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  189. en:left sided involvement occurs more frequently --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:left sided involvement occurs more frequently | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  190. en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  191. en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  192. en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  193. en:manifestations continue to appear until 5th decade --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:manifestations continue to appear until 5th decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  194. en:marked intrafamilial variability of clinical features --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked intrafamilial variability of clinical features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  195. en:may progress to other body regions after many years --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may progress to other body regions after many years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  196. en:may show good response to levodopa --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may show good response to levodopa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  197. en:mean age at onset 35 years (range 20-60) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 35 years (range 20-60) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  198. en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  199. en:mean age of onset 31 years (range 5-60) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 31 years (range 5-60) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  200. en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  201. en:no extraocular findings --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no extraocular findings | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  202. en:one patient has been reported (last curated august 2015) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  203. en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  204. en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  205. en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  206. en:penetrance estimated to be 80% --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance estimated to be 80% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  207. en:some patients may present with myopathic features --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may present with myopathic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  208. en:some patients may show normal early development before seizure onset --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may show normal early development before seizure onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  209. en:some patients never gain ambulation or become wheelchair-bound --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  210. en:some patients show a favorable response to sulfonylurea treatment --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  211. en:some patients with advanced loss of vision have normal eog --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients with advanced loss of vision have normal eog | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  212. en:subset of patients have leigh syndrome (256000) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subset of patients have leigh syndrome (256000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  213. en:twenty-five percent of affected babies are stillborn --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:twenty-five percent of affected babies are stillborn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  214. en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  215. en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 34 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=34
  216. en:adult onset (20 to 50 years) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (20 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  217. en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  218. en:anemia is responsive to corticosteroid treatment --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia is responsive to corticosteroid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  219. en:approximately half of the mutations are de novo --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately half of the mutations are de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  220. en:associated with advanced paternal age --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with advanced paternal age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  221. en:associated with increased frequency of autoimmune diseases --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with increased frequency of autoimmune diseases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  222. en:chelation therapy can result in clinical improvement --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chelation therapy can result in clinical improvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  223. en:childhood onset --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  224. en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  225. en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  226. en:death in childhood may occur due to end-stage renal disease --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood may occur due to end-stage renal disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  227. en:death in perinatal period --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in perinatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  228. en:death often occurs in childhood --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often occurs in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  229. en:death usually in first year of life --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  230. en:death usually in infancy due to respiratory failure --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in infancy due to respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  231. en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  232. en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  233. en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  234. en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  235. en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated incidence of 1-2 in 10,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  236. en:exacerbated by stress --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbated by stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  237. en:familial occurrence is rare --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial occurrence is rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  238. en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  239. en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  240. en:hair regrowth may occur later in life --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair regrowth may occur later in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  241. en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  242. en:hip joint replacement often necessary --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hip joint replacement often necessary | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  243. en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  244. en:incidence 1-1.5/1,000 live births --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1-1.5/1,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  245. en:incidence of 1 in 10,000 live births --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 10,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  246. en:incidence of 1 in 120,000 live births --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 120,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  247. en:incidence of 1 in 250,000 births --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  248. en:incomplete penetrance (50%) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance (50%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  249. en:increased aneuploidy in offspring --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased aneuploidy in offspring | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  250. en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  251. en:intrafamilial variability in number of missing teeth --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in number of missing teeth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  252. en:lack of treatment results in early death --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lack of treatment results in early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  253. en:late-adult onset has been reported --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-adult onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  254. en:later onset in females --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  255. en:left side involvement more frequent than right side involvement --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:left side involvement more frequent than right side involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  256. en:likely allelic to sc phocomelia syndrome (269000) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  257. en:majority of cases (95%) are sporadic --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases (95%) are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  258. en:majority of patients have normal intelligence --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients have normal intelligence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  259. en:male predominance of 3:1 to 5:1 --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male predominance of 3:1 to 5:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  260. en:many patients become wheelchair-bound --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  261. en:marked clinical variability within families --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked clinical variability within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  262. en:may be due to imprinting defect --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be due to imprinting defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  263. en:may be triggered by minor head trauma --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be triggered by minor head trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  264. en:may have seasonal variance in severity --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may have seasonal variance in severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  265. en:may result in death in neonatal period or early childhood --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may result in death in neonatal period or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  266. en:mean age at onset 32 years --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 32 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  267. en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  268. en:mean age at onset of migraines is 42 years --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of migraines is 42 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  269. en:mean age of onset 50 to 52 years --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 50 to 52 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  270. en:mean survival 5 months --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean survival 5 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  271. en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  272. en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  273. en:median survival 5.7 years --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median survival 5.7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  274. en:nine patients have been reported (last curated july 2015) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nine patients have been reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  275. en:one patient reported (last curated november 2012) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  276. en:onset in early infancy --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  277. en:onset of symptoms in early childhood in most patients --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in early childhood in most patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  278. en:onset of visual dysfunction in early childhood --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of visual dysfunction in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  279. en:prelingual onset --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prelingual onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  280. en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  281. en:quinidine therapy may be effective --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:quinidine therapy may be effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  282. en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  283. en:retinitis pigmentosa --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinitis pigmentosa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  284. en:symptoms precipitated by stress, exertion, fatigue, alcohol --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  285. en:symptoms present from infancy or early childhood --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms present from infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  286. en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  287. en:variable age at onset (late childhood to adult) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (late childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  288. en:variable age of onset (range 4 months to 45 years) --- r_associated #0: 32 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range 4 months to 45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  289. en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:abnormal sensitivity to therapeutic radiation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  290. en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  291. en:adult onset (wide range of age) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (wide range of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  292. en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  293. en:average disease duration of 7 years --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average disease duration of 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  294. en:based on report of 2 sibs in 2008 --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 sibs in 2008 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  295. en:boys are more often affected than girls (3:2) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:boys are more often affected than girls (3:2) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  296. en:carrier females may have mild intellectual disability --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may have mild intellectual disability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  297. en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical and biochemical abnormalities disappear with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  298. en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  299. en:cold-induced sweating develops late in the first decade --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cold-induced sweating develops late in the first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  300. en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  301. en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  302. en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  303. en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  304. en:disease shows slow progression --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease shows slow progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  305. en:diurnal fluctuation --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diurnal fluctuation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  306. en:dwarfism not detectable at birth --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dwarfism not detectable at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  307. en:early death (usually by 3 years of age) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death (usually by 3 years of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  308. en:episodes tend to decrease with age --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes tend to decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  309. en:fatal before age 2 years --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  310. en:first fracture in early childhood --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first fracture in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  311. en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  312. en:hematuria may become apparent after respiratory infections (synpharyngitic) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  313. en:high frequency of absence seizures (several per day) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency of absence seizures (several per day) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  314. en:high recurrence rate --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high recurrence rate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  315. en:highly variable phenotype, even within families --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype, even within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  316. en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  317. en:hyperlipidemia may be partially responsive to fat-restricted diet --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  318. en:incidence 1 in 15,000-28,000 births --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 15,000-28,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  319. en:incidence of 1 in 100,000 births --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 100,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  320. en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  321. en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  322. en:incidence of 1 in 57,000 --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 57,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  323. en:incomplete penetrance (range 13% to 77% by 50 years of age) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  324. en:incomplete penetrance in some families --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance in some families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  325. en:increased male to female ratio (7.5:1) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased male to female ratio (7.5:1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  326. en:increased paternal age --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased paternal age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  327. en:individuals do not develop erythrocytosis under hypoxic conditions --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  328. en:inheritance pattern is unclear --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:inheritance pattern is unclear | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  329. en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  330. en:intermediate expression in females --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intermediate expression in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  331. en:intermittent exacerbations --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intermittent exacerbations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  332. en:isolated finding --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:isolated finding | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  333. en:later onset may occur --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  334. en:later onset of neurologic features --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset of neurologic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  335. en:life-threatening infections --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:life-threatening infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  336. en:marked heterogeneity --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  337. en:mean age at onset 57-60 years --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 57-60 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  338. en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  339. en:mean age of onset 20.6 years --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 20.6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  340. en:mean age of onset 30 years (range 25-42) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 30 years (range 25-42) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  341. en:mean age of onset in third decade --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset in third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  342. en:precipitation by pregnancy --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitation by pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  343. en:presence of additional features is variable --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presence of additional features is variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  344. en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  345. en:relatively mild phenotype --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively mild phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  346. en:sexual infantilism --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sexual infantilism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  347. en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  348. en:two unrelated families have been reported (last curated february 2016) --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  349. en:variable severity of clinical and radiologic manifestations --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity of clinical and radiologic manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  350. hydramnios --- r_associated #0: 31 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  351. en:(1) infantile nephropathic (219800) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(1) infantile nephropathic (219800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  352. en:(5) dihydrolipoyl dehydrogenase (e3)-deficient --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  353. en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  354. en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  355. en:5-10% of all wilms tumor are bilateral --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:5-10% of all wilms tumor are bilateral | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  356. en:99+% of the mutations are fgfr3, g380r (134934.0001) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  357. en:a second patient died at age 3 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a second patient died at age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  358. en:a severe infantile variant has been rarely reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a severe infantile variant has been rarely reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  359. en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  360. en:about 5% of patients have a history of febrile seizures --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 5% of patients have a history of febrile seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  361. en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  362. en:adult onset (27 to 48 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (27 to 48 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  363. en:adult onset (mean 30 years, range 10-65 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  364. en:adult onset (range 14 to 70 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 14 to 70 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  365. en:adult onset has been rarely reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset has been rarely reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  366. en:adult onset of neurologic symptoms has been reported in 1 family --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  367. en:adult-onset is referred to as small fiber neuropathy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  368. en:affected males are all result of new mutation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males are all result of new mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  369. en:age at death:time:point in time:^patient:quantitative --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at death:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  370. en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  371. en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  372. en:age:time:pt:^patient:qn:reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age:time:pt:^patient:qn:reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  373. en:all cases are de novo --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases are de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  374. en:all reported cases have occurred de novo --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported cases have occurred de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  375. en:allelic disorder to autosomal dominant spg13 (605280) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  376. en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  377. en:allelic disorder to cmt4a (214400) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to cmt4a (214400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  378. en:allelic disorder to duane-radial ray syndrome (drrs, 607323) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  379. en:allelic disorder to infantile neuroaxonal dystrophy (256600) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  380. en:allelic disorder to long qt syndrome-1 (lqt1, 192500) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  381. en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  382. en:allelic disorder to stickler syndrome 3 (184840) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  383. en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  384. en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  385. en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  386. en:allelic to enhanced s-cone syndrome (268100) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  387. en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  388. en:allelic to multiple pterygium syndrome, lethal type (253290) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  389. en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  390. en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  391. en:allelic to trp1 (190350) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to trp1 (190350) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  392. en:almost all patients require total parenteral nutrition --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:almost all patients require total parenteral nutrition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  393. en:alpha thalassemia-mental retardation syndrome --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alpha thalassemia-mental retardation syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  394. en:also called 'heterozygous osmed' and 'autosomal dominant osmed' --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  395. en:ambulation is preserved --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ambulation is preserved | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  396. en:anemia, diabetes, and deafness often show onset at different ages --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  397. en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  398. en:apparent at birth --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:apparent at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  399. en:approximately 25% have a severe course and die of respiratory failure --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  400. en:associated with deletion at chromosome 2q37 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with deletion at chromosome 2q37 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  401. en:associated with fragile x syndrome (309550) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with fragile x syndrome (309550) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  402. en:associated with iron deficiency anemia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with iron deficiency anemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  403. en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  404. en:ataxia becomes evident at the end of the first year of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ataxia becomes evident at the end of the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  405. en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  406. en:attacks triggered by catabolic stress, such as fever or illness --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  407. en:atypical hemolytic-uremic syndrome shows onset in first 12 months --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  408. en:autosomal dominant with incomplete penetrance --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant with incomplete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  409. en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  410. en:autosomal recessive inheritance is most common --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance is most common | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  411. en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  412. en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  413. en:autosomal recessive omodysplasia has also been described (258315) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  414. en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  415. en:average age at onset 19 years (range 5 to 38) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 19 years (range 5 to 38) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  416. en:average age at onset 66 years although earlier onset may occur --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 66 years although earlier onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  417. en:average onset 6 months (range 3-9) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average onset 6 months (range 3-9) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  418. en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average onset of seizures 6 months (range 3-12) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  419. en:based on 4 patients in one family --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 4 patients in one family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  420. en:based on report of 1 family (last curated february 2015) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 family (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  421. en:based on report of 2 sisters (last curated october 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  422. en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  423. en:begins as focal dystonia, later becomes segmental or generalized --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  424. en:benign condition --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:benign condition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  425. en:both heterozygous and homozygous mutations have been reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both heterozygous and homozygous mutations have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  426. en:breech position --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:breech position | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  427. en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  428. en:carrier females show no clinical phenotype --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females show no clinical phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  429. en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  430. en:cases reported in the old order amish and one japanese family (last curated april 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  431. en:cells of origin are part of the diffuse neuroendocrine system (dnes) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  432. en:characterized by calf weakness at onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:characterized by calf weakness at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  433. en:clinical and pathologic features of both demyelinating and axonal cmt --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  434. en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  435. en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  436. en:clinically unaffected heterozygotes may show changes on electroretinography --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  437. en:common in south african whites --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:common in south african whites | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  438. en:congenital onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  439. en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  440. en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  441. en:death at 20 to 40 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death at 20 to 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  442. en:death by age 2 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  443. en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  444. en:death from pneumonia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death from pneumonia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  445. en:death in early childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  446. en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  447. en:death in utero or in the perinatal period --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero or in the perinatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  448. en:death may occur in childhood due to respiratory failure --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death may occur in childhood due to respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  449. en:death often in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  450. en:death often in the teenage years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often in the teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  451. en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  452. en:death usually occurs in the first weeks to months of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs in the first weeks to months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  453. en:death usually within first year of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually within first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  454. en:death within first year of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  455. en:decreased life expectancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:decreased life expectancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  456. en:despite voluminous steatorrhea, patients' growth and overall state of health is good --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  457. en:developmental fault --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:developmental fault | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  458. en:die at birth or shortly after birth --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:die at birth or shortly after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  459. en:disease complicated by recurrent sepsis in some patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease complicated by recurrent sepsis in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  460. en:disease course depends on age at onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease course depends on age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  461. en:distribution of lesions may be generalized, palmoplantar, or acral --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  462. en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diurnal fluctuation of neurologic symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  463. en:does not result in renal failure --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:does not result in renal failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  464. en:due to lack of epidermal ridging, patients lack fingerprints --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  465. en:earlier onset associated with faster progression and shorter life span --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset associated with faster progression and shorter life span | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  466. en:early age of onset (approximately 45 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early age of onset (approximately 45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  467. en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  468. en:early death in some patients due to cardiorespiratory involvement --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  469. en:early death often occurs from cardiac failure or infection --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death often occurs from cardiac failure or infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  470. en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  471. en:early onset in some patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  472. en:early-onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early-onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  473. en:echocardiogram and ophthalmologic examination normal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:echocardiogram and ophthalmologic examination normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  474. en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  475. en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  476. en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  477. en:excessive skin picking of sores --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:excessive skin picking of sores | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  478. en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  479. en:fatal if renal transplant is not performed --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal if renal transplant is not performed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  480. en:favorable response to anticonvulsants --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to anticonvulsants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  481. en:favorable response to bh4 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to bh4 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  482. en:favorable response to ephedrine treatment --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to ephedrine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  483. en:favorable response to oral creatine treatment --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to oral creatine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  484. en:favoring of fat and protein --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favoring of fat and protein | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  485. en:female carriers may be mildly affected --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may be mildly affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  486. en:female carriers may have hearing loss --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  487. en:female carriers may have subtle manifestations --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have subtle manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  488. en:female to male ratio 8-13:1 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female to male ratio 8-13:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  489. en:females carriers have more variable age at onset and severity --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females carriers have more variable age at onset and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  490. en:females more severely affected than males --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females more severely affected than males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  491. en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  492. en:first described in gypsy group from bulgaria --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first described in gypsy group from bulgaria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  493. en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  494. en:four patients from 3 families have been reported (last curated february 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  495. en:four patients from 3 unrelated families have been reported (last curated july 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  496. en:four unrelated patients have been reported (last curated june 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  497. en:fractures decrease after puberty but increase after menopause --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fractures decrease after puberty but increase after menopause | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  498. en:frequency 1/100,000 - 1/130,000 live births --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  499. en:frequency and severity of seizures tends to decrease with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency and severity of seizures tends to decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  500. en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  501. en:gait disturbance --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gait disturbance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  502. en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  503. en:gene frequency in northwest puerto rico 1 in 18 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  504. en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  505. en:genetic heterogeneity (see 157640) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 157640) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  506. en:genetic heterogeneity (see 604559) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 604559) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  507. en:genetic heterogeneity (see 608638) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 608638) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  508. en:genetic heterogeneity (see 613254) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 613254) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  509. en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  510. en:genetic heterogeneity (see cmt2b2, 605589) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  511. en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  512. en:genetic heterogeneity (see hcfp2, 604185) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  513. en:genetic heterogeneity (see, e.g., atfb1, 608583) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  514. en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  515. en:genetic heterogeneity (x-linked form 305100) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  516. en:genetic heterogeneity of axonal cmt (see cmt2a 118210) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  517. en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  518. en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  519. en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  520. en:genetic heterogeneity, some patients not linked to fgfr3 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  521. en:good response to vitamin d treatment --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to vitamin d treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  522. en:gradual progression --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gradual progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  523. en:green jaundice occurs only in the context of liver failure or obstructive cholestasis --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  524. en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  525. en:health insurance plan benefits comment:finding:point in time:^patient:narrative --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  526. en:hearing impairment may improve with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing impairment may improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  527. en:hearing loss ma be fluctuating or progressive --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss ma be fluctuating or progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  528. en:heterozygous females may have gout and/or sensorineural deafness --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  529. en:heterozygous mutation carriers may show mild symptoms --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  530. en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  531. en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  532. en:high early mortality rate if untreated --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high early mortality rate if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  533. en:high frequency in equatorial africa --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in equatorial africa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  534. en:high frequency in hutterite population --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in hutterite population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  535. en:high frequency in japan (2 in 20,000, 0.1%) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  536. en:high incidence among old order amish --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence among old order amish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  537. en:high mortality in infancy and early childhood (in some patients) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  538. en:highly variable clinical and immunologic phenotype --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable clinical and immunologic phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  539. en:highly variable severity of muscle weakness --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable severity of muscle weakness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  540. en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  541. en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  542. en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  543. en:hyperpigmented patches increased in size and number with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperpigmented patches increased in size and number with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  544. en:hypersensitivity to ionizing radiation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypersensitivity to ionizing radiation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  545. en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  546. en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  547. en:imprinting at 11p15.5 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:imprinting at 11p15.5 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  548. en:improvement with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:improvement with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  549. en:incidence 1 in 8,000 live births --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 8,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  550. en:incidence 8/1,000 newborns --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 8/1,000 newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  551. en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  552. en:incidence of 1 in 3,500 boys --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 3,500 boys | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  553. en:incidence of 1 in 5,000-8,000 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 5,000-8,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  554. en:increased abortuses of homozygous or compound heterozygous fetuses --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  555. en:increased frequency in eastern pennsylvania amish --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in eastern pennsylvania amish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  556. en:increased frequency in finland (incidence 1:60,000 finnish newborns) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  557. en:increased risk of bilateral breast cancer --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of bilateral breast cancer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  558. en:increased risk of developing multiple primary cancers --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of developing multiple primary cancers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  559. en:increased sensitivity to valproic acid toxicity --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased sensitivity to valproic acid toxicity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  560. en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  561. en:infantile form accounts for 90% of cases --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile form accounts for 90% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  562. en:infants may have acute life-threatening crises --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants may have acute life-threatening crises | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  563. en:infants show normal size and appearance --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants show normal size and appearance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  564. en:intrafamilial variability in nail changes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in nail changes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  565. en:joint dislocations become less frequent with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:joint dislocations become less frequent with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  566. en:juvenile form has onset between 4 and 19 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile form has onset between 4 and 19 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  567. en:keratitis-ichthyosis-deafness syndrome --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  568. en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  569. en:laboratory findings are variable --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:laboratory findings are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  570. en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  571. en:lesions occur mainly on the pinnae of the ears or on the face --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  572. en:lethal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lethal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  573. en:lethal in utero or perinatal lethal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lethal in utero or perinatal lethal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  574. en:linked to 10q24 trisomy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:linked to 10q24 trisomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  575. en:liveborn often die within first week of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liveborn often die within first week of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  576. en:longer disease duration than creutzfeldt-jakob disease --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  577. en:loss of independent ambulation in the second decade --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of independent ambulation in the second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  578. en:low physical performance --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:low physical performance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  579. en:major cause of death is heart failure --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:major cause of death is heart failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  580. en:majority are stillborn or die in early neonatal period --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority are stillborn or die in early neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  581. en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  582. en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases diagnosed at age 10-15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  583. en:majority of cases from middle eastern countries --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases from middle eastern countries | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  584. en:majority of patients are ambulatory --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients are ambulatory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  585. en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  586. en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  587. en:many patients recover normally --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients recover normally | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  588. en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  589. en:maternal anticipation bias --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal anticipation bias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  590. en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  591. en:may be fatal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be fatal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  592. en:may be induced by fever or hot bath --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be induced by fever or hot bath | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  593. en:may result in sudden death --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may result in sudden death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  594. en:mean age of onset 16 to 19 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 16 to 19 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  595. en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset about 62 years (45-79 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  596. en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  597. en:medial onset of end stage renal disease 13 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:medial onset of end stage renal disease 13 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  598. en:mental retardation likely secondary to neonatal hypoxia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  599. en:microdeletion is approximately 1.5mb in length --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:microdeletion is approximately 1.5mb in length | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  600. en:mild phenotype --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  601. en:more prevalent in females --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more prevalent in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  602. en:most cases result from a de novo mutation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases result from a de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  603. en:most common disorder of fatty acid oxidation (1/13,000 births) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  604. en:most common subtype of frontotemporal dementia (600274) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  605. en:most patients become wheelchair-bound in adolescence or as young adults --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  606. en:most patients become wheelchair-bound in the second to fourth decades --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  607. en:most patients die in the neonatal period due to respiratory insufficiency --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  608. en:most patients remain ambulatory in adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients remain ambulatory in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  609. en:most remit by 6 weeks (1-6 months) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most remit by 6 weeks (1-6 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  610. en:multiple lesions in familial cases --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple lesions in familial cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  611. en:mutation carriers may show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  612. en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  613. en:natural aversion to carbohydrates --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:natural aversion to carbohydrates | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  614. en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  615. en:neonatal onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  616. en:neurologic involvement may occur in the absence of visceral involvement --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  617. en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  618. en:neuropathy becomes apparent in childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuropathy becomes apparent in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  619. en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  620. en:no clinical details provided by the authors --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no clinical details provided by the authors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  621. en:no history of familial hypercholesterolemia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no history of familial hypercholesterolemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  622. en:no male-to-male transmission --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no male-to-male transmission | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  623. en:no preceding skin inflammatory stage --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no preceding skin inflammatory stage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  624. en:no response or worsening with acetylcholinesterase inhibitors --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  625. en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  626. en:non-tender --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:non-tender | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  627. en:nonprogressive hepatic form is less frequent --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonprogressive hepatic form is less frequent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  628. en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  629. en:normal cag repeat length is 7 to 32 triplets --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  630. en:normal first month --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal first month | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  631. en:normal neonatal course --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal neonatal course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  632. en:nyctalopia is a later feature of the disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nyctalopia is a later feature of the disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  633. en:observed in individuals of bulgarian roma bowlmaker ethnic group --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  634. en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  635. en:odor of 'sweaty feet' --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:odor of 'sweaty feet' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  636. en:often confused with tuberous sclerosis (191000) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often confused with tuberous sclerosis (191000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  637. en:often identified in newborn period --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often identified in newborn period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  638. en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  639. en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  640. en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  641. en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  642. en:one consanguineous family has been reported (last curated december 2010) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  643. en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  644. en:one consanguineous pakistani family has been reported (last curated june 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  645. en:one consanguineous pakistani family has been reported (last curated october 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  646. en:one consanguineous pakistani family reported (last curated august 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  647. en:one family and 1 unrelated patient have been reported (last curated july 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  648. en:one family has been reported (last curated april 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  649. en:one family has been reported (last curated december 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  650. en:one family has been reported (last curated december 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  651. en:one family has been reported (last curated june 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated june 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  652. en:one family has been reported (last curated september 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  653. en:one family reported (last curated november 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  654. en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  655. en:one indian family has been reported (as of october 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one indian family has been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  656. en:one korean family has been reported (as of november 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one korean family has been reported (as of november 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  657. en:one large 4-generation uruguayan family reported (last curated august 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  658. en:one large consanguineous arab muslim family has been reported (as of september 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  659. en:one lebanese family has been reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one lebanese family has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  660. en:one pakistani family reported (last curated november 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one pakistani family reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  661. en:one patient has been reported (as of august 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  662. en:one patient has been reported (as of december 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of december 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  663. en:one patient has been reported (as of march 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of march 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  664. en:one patient has been reported (last curated january 2010) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated january 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  665. en:onset 13 to 63 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 13 to 63 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  666. en:onset 30-40 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 30-40 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  667. en:onset 5 to 10 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 5 to 10 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  668. en:onset and diagnosis may occur later (after age 20 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  669. en:onset at age 36 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at age 36 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  670. en:onset between 10 and 20 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 10 and 20 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  671. en:onset between 2-5 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 2-5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  672. en:onset between 28 and 42 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 28 and 42 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  673. en:onset between 34 and 51 years of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 34 and 51 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  674. en:onset between age 2 and 15 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between age 2 and 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  675. en:onset birth to early infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset birth to early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  676. en:onset day of life 1-10 in infants fed lactose-containing milk --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  677. en:onset in adolescence or adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence or adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  678. en:onset in childhood, but most noticeable in mid-teens and early adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  679. en:onset in early childhood (2-4 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (2-4 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  680. en:onset in early childhood (infancy to 6 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (infancy to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  681. en:onset in first 2 decades --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first 2 decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  682. en:onset in first decades (males) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decades (males) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  683. en:onset in first weeks to months of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first weeks to months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  684. en:onset in infancy (3 months on) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (3 months on) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  685. en:onset in infancy (first year of life) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (first year of life) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  686. en:onset in infancy and early childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy and early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  687. en:onset in infancy of acute hypoglycemic episodes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  688. en:onset in infancy or childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  689. en:onset in infancy or childhood (range 1 to 13 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  690. en:onset in late teens to twenties --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late teens to twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  691. en:onset in middle age (44 to 60 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in middle age (44 to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  692. en:onset in the second to fourth decades of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the second to fourth decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  693. en:onset is usually in childhood or adolescence (2 to 18 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  694. en:onset mid to late adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset mid to late adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  695. en:onset of autoinflammation in infancy or first few years of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  696. en:onset of bone disease in second decade (range 18-44 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  697. en:onset of crises in early childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of crises in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  698. en:onset of deafness and diabetes in adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of deafness and diabetes in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  699. en:onset of dilated cardiomyopathy less than 3 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  700. en:onset of hearing loss in late childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  701. en:onset of hematologic or cns tumors in the first or second decades of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  702. en:onset of liver involvement in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of liver involvement in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  703. en:onset of major clinical features in young adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of major clinical features in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  704. en:onset of muscle weakness in fifth decade --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of muscle weakness in fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  705. en:onset of optic atrophy in childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of optic atrophy in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  706. en:onset of optic neuropathy is usually in early adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  707. en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  708. en:onset of progressive spastic paraplegia in childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of progressive spastic paraplegia in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  709. en:onset of seizures in later childhood (5 to 10 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  710. en:onset of spasticity by age 2 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of spasticity by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  711. en:onset of visual loss in childhood (around age 5 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  712. en:onset usually associated with febrile illness --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually associated with febrile illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  713. en:onset usually in childhood or adolescence --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  714. en:onset usually in early adolescence --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in early adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  715. en:onset usually in second decade (may occur earlier) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in second decade (may occur earlier) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  716. en:onset usually in young adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  717. en:onset within first 2 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within first 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  718. en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  719. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  720. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  721. en:overlapping features with barber-say syndrome (209885) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlapping features with barber-say syndrome (209885) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  722. en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  723. en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  724. en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  725. en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  726. en:patients are prone to impaired thermoregulation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are prone to impaired thermoregulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  727. en:patients from 4 unrelated families have been reported (as of october 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  728. en:patients have a distinctive shallow u-shaped audiogram --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  729. en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  730. en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  731. en:patients may be asymptomatic, but are at risk for metabolic decompensation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  732. en:patients may become wheelchair-bound as adults --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may become wheelchair-bound as adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  733. en:patients may show both optic neuropathy and dystonia or only 1 disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  734. en:patients remain ambulatory --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients remain ambulatory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  735. en:patients with atypical form have milder disease, with onset in the first months of life and increased survival --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  736. en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  737. en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  738. en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  739. en:performing laboratory name:identifier:point in time:facility:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  740. en:perinatal lethality --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:perinatal lethality | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  741. en:perinatal mortality --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:perinatal mortality | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  742. en:persistent exposure to fructose leads to chronic liver and kidney complications --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  743. en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  744. en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  745. en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  746. en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  747. en:phenotypic similarities to noonan syndrome (163950) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  748. en:plasma cholinesterase measurement --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:plasma cholinesterase measurement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  749. en:polyhydramnion --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:polyhydramnion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  750. en:polyhydramnios --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:polyhydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  751. en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  752. en:possible gonadal mosaicism in one report --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible gonadal mosaicism in one report | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  753. en:postlingual onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:postlingual onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  754. en:precipitated by fatigue or alcohol --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by fatigue or alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  755. en:precipitated by fever --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by fever | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  756. en:precipitating factors - ingestion of wheat gluten, rye, and/or barley --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  757. en:predisposition to neoplasia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:predisposition to neoplasia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  758. en:prenatal or neonatal onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal or neonatal onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  759. en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  760. en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  761. en:presents as early-onset strokes in 43% of patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents as early-onset strokes in 43% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  762. en:prevalence of 0.5 to 1 in 1,000 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  763. en:prevalence of 1 in 1,429 in tanzania --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  764. en:prevalence of 1 in 28,000 african-americans --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 28,000 african-americans | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  765. en:prevalence of 1 in 70,000 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 70,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  766. en:prevalence of true hypoprothrombinemia is 1 in 2 million --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  767. en:prevalent among individuals of east asian descent --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent among individuals of east asian descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  768. en:prevalent in north africa --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in north africa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  769. en:prevalent in the old order amish in the u.s. and in finland --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  770. en:progressive disease with onset in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disease with onset in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  771. en:progressive neurologic deterioration if untreated --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive neurologic deterioration if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  772. en:protein s deficiency is found in 2-3% of patients with thromboembolism --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  773. en:range of onset 11 to 50 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:range of onset 11 to 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  774. en:rapidly progressive (6-24 months) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive (6-24 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  775. en:rash, edema, and arthralgia may occur during crisis --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  776. en:reduced life expectancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced life expectancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  777. en:reference lab test identifier:id:xxx:reference lab test:nom --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  778. en:relationship of rare neuropsychiatric signs to histidinemia is unclear --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  779. en:risk of sudden death due to cardiac defects --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of sudden death due to cardiac defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  780. en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  781. en:seasonal variation in severity of skin symptoms reported by some patients --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  782. en:second most common form of usher syndrome type i --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:second most common form of usher syndrome type i | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  783. en:see also autosomal dominant peoa1 (157640) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant peoa1 (157640) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  784. en:see also autosomal form, 146450, and another x-linked form, 300758 --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  785. en:see also cbld (277410) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also cbld (277410) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  786. en:see also cmtx1 (302800) and cmtx2 (302801) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  787. en:see also dominant deb (131750), an allelic disorder with a less severe phenotype --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  788. en:see also french-canadian type of leigh syndrome (220111) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  789. en:see also later childhood-onset form (300718) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also later childhood-onset form (300718) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  790. en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  791. en:see also pfm3 on chromosome 4q21-q23 (609566) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  792. en:see also x-linked leigh syndrome (312170) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked leigh syndrome (312170) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  793. en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  794. en:see ebn1 (121200) for an autosomal dominant form --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  795. en:seizures become nearly continuous --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures become nearly continuous | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  796. en:seizures may remit with age (in some patients) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may remit with age (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  797. en:seizures precipitated by fatigue or alcohol --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures precipitated by fatigue or alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  798. en:seizures resolve by 4 months of age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures resolve by 4 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  799. en:seizures tend to become more focal with age --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures tend to become more focal with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  800. en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  801. en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  802. en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  803. en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  804. en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  805. en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  806. en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  807. en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  808. en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  809. en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  810. en:several forms of autosomal recessive spastic paraplegia (see 270800) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  811. en:short stepped shuffling gait --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:short stepped shuffling gait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  812. en:similar to infantile neuroaxonal dystrophy (inad, 256600) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  813. en:six patients have been reported (5/18/2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients have been reported (5/18/2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  814. en:six patients have been reported (as of july 2011) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients have been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  815. en:slow, progressive growth, then stable --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slow, progressive growth, then stable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  816. en:somatic or germline mosaicism may occur --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:somatic or germline mosaicism may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  817. en:some features are variable, even within families --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features are variable, even within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  818. en:some female carriers are more mildly affected --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some female carriers are more mildly affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  819. en:some more severely affected patients may die in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some more severely affected patients may die in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  820. en:some mutation carriers have mild features of frontonasal dysplasia (613451) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  821. en:some patients do not have dysmorphic features --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not have dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  822. en:some patients do not have thin corpus callosum --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not have thin corpus callosum | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  823. en:some patients have cessation of seizures at a mean of 12 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  824. en:some patients have no or mild manifestations and normal development --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have no or mild manifestations and normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  825. en:some patients have only plantar surface involvement --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have only plantar surface involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  826. en:some patients may not present until adulthood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may not present until adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  827. en:some patients never achieve walking or running --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients never achieve walking or running | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  828. en:some patients report seasonal variation in symptoms --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients report seasonal variation in symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  829. en:some patients require insulin for treatment --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients require insulin for treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  830. en:some patients show onset later in childhood --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show onset later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  831. en:some patients show significant clinical improvement with riboflavin supplementation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  832. en:static, nonprogressive disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:static, nonprogressive disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  833. en:stillborn or lethal in the neonatal period --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stillborn or lethal in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  834. en:survival past infancy is rare --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival past infancy is rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  835. en:surviving infants develop severe nonbullous ichthyosiform erythroderma --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  836. en:symptoms are not apparent at rest --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms are not apparent at rest | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  837. en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  838. en:symptoms precipitated by sudden movements --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by sudden movements | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  839. en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  840. en:teeth may undergo post-eruptive changes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:teeth may undergo post-eruptive changes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  841. en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  842. en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  843. en:thorax anomaly ameliorates with age (in some patients) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  844. en:three patients from 1 mexican family has been reported (last curated april 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  845. en:three unrelated families have been reported (last curated february 2015) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  846. en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  847. en:treatment with dichloroacetate (dca) prolongs survival --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  848. en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  849. en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  850. en:tumors are microsatellite stable --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tumors are microsatellite stable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  851. en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  852. en:two families have been reported (last curated april 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  853. en:two families reported (last curated february 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families reported (last curated february 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  854. en:two families reported (last curated september 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families reported (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  855. en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  856. en:two forms: iia (severe) and iib (mild) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two forms: iia (severe) and iib (mild) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  857. en:two japanese families have been reported (as of february 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two japanese families have been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  858. en:two of 6 patients became wheelchair-bound by age 20 years --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  859. en:two patients from 1 italian family have been reported (as of april 2010) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  860. en:two patients have been reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  861. en:two patients have been reported (as of august 2010) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients have been reported (as of august 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  862. en:two sibs have been reported (last curated october 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  863. en:two types - lethal neonatal and less severe, late onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two types - lethal neonatal and less severe, late onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  864. en:two types - severe infantile form (type i) and milder form (type ii) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  865. en:two unrelated families have been reported (as of october 2010) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (as of october 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  866. en:two unrelated families have been reported (last curated november 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  867. en:two unrelated families have been reported (last curated september 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  868. en:two unrelated patients have been reported (last curated december 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  869. en:two unrelated patients have been reported (last curated july 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  870. en:two unrelated patients have been reported (last curated march 2014) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  871. en:two unrelated patients with de novo mutations have been reported (last curated november 2013) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with de novo mutations have been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  872. en:two unrelated patients with different phenotypes have been reported (as of march 2012) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  873. en:type 2n shows autosomal recessive inheritance --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2n shows autosomal recessive inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  874. en:type iiib liver involvement only (15% of all cases) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type iiib liver involvement only (15% of all cases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  875. en:u.s. frequency higher in blacks than whites --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:u.s. frequency higher in blacks than whites | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  876. en:uncommon disorder --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:uncommon disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  877. en:up to 60% of female mutation carriers develop lobular breast cancer --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  878. en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  879. en:usually fatal in infancy --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually fatal in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  880. en:variable age at onset (8 to 62 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (8 to 62 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  881. en:variable age at onset (childhood to adulthood) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (childhood to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  882. en:variable age at onset (range 8 to 60 years, mean 32) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  883. en:variable age at onset (range late infancy to adulthood) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range late infancy to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  884. en:variable age at onset, most often in second decade --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, most often in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  885. en:variable age at onset, usually in first decade, but can occur later --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  886. en:variable age of onset (infancy to 63 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (infancy to 63 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  887. en:variable age of onset (range 1 to 30 years) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range 1 to 30 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  888. en:variable age of onset, from early childhood to seventh decade of life --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  889. en:variable clinical presentation ranging from acute onset to normal adult --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  890. en:variable disease severity --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable disease severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  891. en:variable duration (minutes to hours) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable duration (minutes to hours) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  892. en:variable expression --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  893. en:variable expression and severity --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expression and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  894. en:variable expressivity, some patients may be clinically asymptomatic --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  895. en:variable severity, intrafamilial --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, intrafamilial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  896. en:variable severity, ranging from central severe to peripheral to transient --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  897. en:very few patients reported --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:very few patients reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  898. en:very slow progression --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:very slow progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  899. en:vhl type 2b - renal carcinoma and pheochromocytoma --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  900. en:walking delay --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:walking delay | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  901. en:wasting of hands often occurs first --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wasting of hands often occurs first | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  902. en:waxing and waning cardiomyopathy (in some patients) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  903. en:wheelchair-bound after 2 decades of disease onset --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  904. en:wide phenotypic variability --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide phenotypic variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  905. en:x-linked inheritance could not be ruled out --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:x-linked inheritance could not be ruled out | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  906. en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  907. létal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=létal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  908. léthal --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=léthal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  909. maladie opportuniste --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=maladie opportuniste | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  910. malformation --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  911. polyhydramnios --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=polyhydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  912. rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  913. une anomalie congénitale --- r_associated #0: 30 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=une anomalie congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=30
  914. Maladie congénitale --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Maladie congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  915. en:(4) thiamine-responsive form --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(4) thiamine-responsive form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  916. en:21 patients from 17 kindreds reported (as of february 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  917. en:40 patients in 16 dominant kindreds reported (as of february 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  918. en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  919. en:a subset of patients have a 'visual variant' --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients have a 'visual variant' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  920. en:about half of patients report vestibular symptoms --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about half of patients report vestibular symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  921. en:absence of both inner and outer dynein arms of cilia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:absence of both inner and outer dynein arms of cilia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  922. en:absence of premature birth, low birthweight, and exposure to oxygen --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  923. en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  924. en:accounts for 1-2% of lymphomas in adults --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for 1-2% of lymphomas in adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  925. en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  926. en:adult onset (after age 35 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (after age 35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  927. en:adult onset (before 50 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (before 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  928. en:adult onset (mean of 30 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean of 30 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  929. en:affected females may have increased spontaneous abortions --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected females may have increased spontaneous abortions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  930. en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  931. en:affected infants appear normal at birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected infants appear normal at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  932. en:affected infants often die in utero or in the postnatal period --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected infants often die in utero or in the postnatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  933. en:affected males are infertile, whereas affected females have recurrent pregnancy loss --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  934. en:affected males have onset of poor vision before the age of 2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  935. en:affected males have serotonin-related disorders such as migraine headaches and diabetes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  936. en:affects 1 in 250,000 to 1 million people worldwide --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  937. en:age of onset 5 to 40 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 5 to 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  938. en:age of onset earlier in familial cases than in sporadic cases --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset earlier in familial cases than in sporadic cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  939. en:age of onset ranges from infancy to young adulthood (6 months-19 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  940. en:age of onset usually 1 week to 2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset usually 1 week to 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  941. en:age of onset within the first years of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset within the first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  942. en:age of onset/diagnosis 12-35 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset/diagnosis 12-35 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  943. en:age-related clinical course --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age-related clinical course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  944. en:all cases from a remote village, sabinas, in northern mexico --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  945. en:all cases have been stillborn or immediate neonatal death --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases have been stillborn or immediate neonatal death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  946. en:all cases sporadic (18 males, 7 females) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases sporadic (18 males, 7 females) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  947. en:all reported mutations have occurred de novo --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported mutations have occurred de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  948. en:allelic disorder to adult polyglucosan body disease (263570) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  949. en:allelic disorder to autosomal recessive form (224900) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  950. en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  951. en:allelic disorder to brachydactyly type b (113000) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  952. en:allelic disorder to child syndrome (308050) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to child syndrome (308050) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  953. en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  954. en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  955. en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  956. en:allelic to deafness, autosomal recessive 23 (609533) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  957. en:allelic to ellis-van creveld syndrome (225500) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  958. en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  959. en:allelic to hawkinsinuria (140350) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hawkinsinuria (140350) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  960. en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  961. en:allelic to senior-loken syndrome 4 (606996) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  962. en:allelic to several forms of autosomal recessive cmt (see 214400) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  963. en:allelic to sialuria, finnish type (604369) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to sialuria, finnish type (604369) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  964. en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  965. en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  966. en:an autosomal recessive form has been reported (269720) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:an autosomal recessive form has been reported (269720) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  967. en:antenatal onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:antenatal onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  968. en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  969. en:aortic dissection may occur in second decade of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:aortic dissection may occur in second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  970. en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  971. en:associated specifically with the gba d409h mutation (606463.0006) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  972. en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  973. en:associated with fragile x syndrome (300624) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with fragile x syndrome (300624) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  974. en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  975. en:associated with malignant hyperthermia (mhs, 145600) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  976. en:associated with smoking --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with smoking | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  977. en:attacks more common in women --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks more common in women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  978. en:autosomal recessive (177000.0006) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive (177000.0006) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  979. en:autosomal recessive cytochrome b-positive cgd, type ii --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  980. en:autosomal recessive inheritance has also been reported --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has also been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  981. en:basal cell neoplasms develop after second decade --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:basal cell neoplasms develop after second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  982. en:based on 1 reported family with oca6 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 reported family with oca6 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  983. en:based on one large dutch family (last curated august 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one large dutch family (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  984. en:based on one report of a 4-generation family with 4 affected males and 6 affected females --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  985. en:based on one sib pair each in their seventies --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one sib pair each in their seventies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  986. en:based on report of one polish roma patient (last curated november 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  987. en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  988. en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  989. en:birth rate of 7.6 per 1,000,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:birth rate of 7.6 per 1,000,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  990. en:bleeding after trauma or surgery --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bleeding after trauma or surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  991. en:blistering and erosions tend to occur on extensor surfaces or over bony prominences --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  992. en:both homozygous and heterozygous edn3 mutations have been found --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  993. en:both reported cases survived beyond infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both reported cases survived beyond infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  994. en:can be asymptomatic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  995. en:can be slowly or rapidly progressive --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be slowly or rapidly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  996. en:cardiac manifestations are often fatal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac manifestations are often fatal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  997. en:carrier females are unaffected --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females are unaffected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  998. en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  999. en:carrier females may present with postpartum hyperammonemia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may present with postpartum hyperammonemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1000. en:carrier females may show neuropsychologic impairment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may show neuropsychologic impairment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1001. en:carrier frequency 1:700 in bukhara jewish populations --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1002. en:carrier males are unaffected except for psychiatric/behavioral abnormalities --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1003. en:carrier mothers have urine biochemistry profiles identical to those of their sons --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1004. en:caused by constitutive activation of the avpr2 receptor --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1005. en:characteristic face and body by age 2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:characteristic face and body by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1006. en:childhood onset may occur --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1007. en:clinical features based on 1 reported family (last curated august 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1008. en:clinical features may vary --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical features may vary | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1009. en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1010. en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1011. en:clinical presentation varies --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical presentation varies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1012. en:clinically 'silent' nystagmus evident on eye movement recording in carrier females --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1013. en:clinically similar to torsion dystonia-1 (dyt1, 128100) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically similar to torsion dystonia-1 (dyt1, 128100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1014. en:codominant inheritance has been suggested --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:codominant inheritance has been suggested | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1015. en:complementation groups - complementation group a (classic mliii, 252600) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1016. en:considered to be a manifestation of the caudal regression syndrome --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1017. en:contiguous gene deletion syndrome at chromosome 6p --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1018. en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1019. en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1020. en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1021. en:death by age 15 months --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death by age 15 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1022. en:death by age 5 (infantile form) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death by age 5 (infantile form) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1023. en:death by age 6-7 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death by age 6-7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1024. en:death in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1025. en:death in childhood secondary to malabsorption --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood secondary to malabsorption | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1026. en:death in infancy (1 patient) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy (1 patient) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1027. en:death in infancy secondary to kernicterus --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy secondary to kernicterus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1028. en:death in infancy secondary to pulmonary insufficiency --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1029. en:death may occur in infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death may occur in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1030. en:death occurs 5 to 10 years after onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death occurs 5 to 10 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1031. en:death usually in infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1032. en:death usually in infancy or early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1033. en:decreased penetrance --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:decreased penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1034. en:described predominantly in families from the philippines --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described predominantly in families from the philippines | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1035. en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1036. en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1037. en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1038. en:disorder may progress to involve a larger body area --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disorder may progress to involve a larger body area | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1039. en:disorder usually remains stable over time --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disorder usually remains stable over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1040. en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1041. en:distinct disorder from autosomal dominant hyper ige syndrome (147060) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1042. en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1043. en:distinctive and stereotyped sequence of events --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinctive and stereotyped sequence of events | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1044. en:dopa-unresponsive --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dopa-unresponsive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1045. en:dysmorphic features were only reported in 1 patient --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic features were only reported in 1 patient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1046. en:earlier onset associated with increased severity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset associated with increased severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1047. en:early death due to sepsis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death due to sepsis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1048. en:early onset (1 month to 4 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset (1 month to 4 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1049. en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1050. en:early onset, between 35-60 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset, between 35-60 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1051. en:early treatment can reduce neurologic symptoms --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early treatment can reduce neurologic symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1052. en:electroretinogram reduction as early as 4 years of age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:electroretinogram reduction as early as 4 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1053. en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:elevated body temperatures to 42 degrees celsius | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1054. en:episodes last 1 to 2 days --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes last 1 to 2 days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1055. en:episodes not triggered by alcohol, caffeine, or stress --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1056. en:episodic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1057. en:erythema often triggered by sudden temperature change or emotional stress --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1058. en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1059. en:estimated gene carrier frequency of 1 in 5,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1060. en:estimated incidence 1/20,000 - 1/40,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1061. en:estimated mutation carrier rate of 1 in 350 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1062. en:evidence of systemic iron overload seen in 1 family --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:evidence of systemic iron overload seen in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1063. en:exacerbation during febrile episodes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbation during febrile episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1064. en:extreme phenotypic variability --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:extreme phenotypic variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1065. en:facial dysmorphism is age-related and alters substantially over time --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1066. en:family history of sudden death, as early as fourth decade of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:family history of sudden death, as early as fourth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1067. en:fasting status:acnc:pt:^patient:ord:reported --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fasting status:acnc:pt:^patient:ord:reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1068. en:fat pads become less prominent with time --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fat pads become less prominent with time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1069. en:favorable response of episodic attacks to acetazolamide --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response of episodic attacks to acetazolamide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1070. en:favorable response to flunarizine --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to flunarizine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1071. en:favorable response to hydroxychloroquine treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to hydroxychloroquine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1072. en:female carriers experience significant clinical manifestations --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers experience significant clinical manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1073. en:female carriers may have mild mental retardation --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have mild mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1074. en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1075. en:fifty percent of cases are sporadic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fifty percent of cases are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1076. en:fishy body odor --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fishy body odor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1077. en:five patients reported (as of march 2009) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five patients reported (as of march 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1078. en:five unrelated patients have been reported (last curated july 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1079. en:flunarizine treatment may be beneficial --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:flunarizine treatment may be beneficial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1080. en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1081. en:for similar autosomal dominant form, see 162350 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:for similar autosomal dominant form, see 162350 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1082. en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1083. en:four individual patients and 1 saudi family have been reported (as of february 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1084. en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1085. en:four patients reported (last curated april 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1086. en:four unrelated families of caucasian european descent have been reported (last curated february 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1087. en:four unrelated patients have been reported (last curated august 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1088. en:fracture frequency constant through childhood, decreases after puberty --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1089. en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1090. en:frequency between 1 in 58,000 to 1 in 1,000,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1091. en:frequently fatal within the first year of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequently fatal within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1092. en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1093. en:genetic anticipation associated with progressive telomere shortening --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1094. en:genetic heterogeneity (ccm2 603284, ccm3 603285) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1095. en:genetic heterogeneity (see 191100) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 191100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1096. en:genetic heterogeneity (see 213300) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 213300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1097. en:genetic heterogeneity (see cms1a2, 254210) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cms1a2, 254210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1098. en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1099. en:genetic heterogeneity (see cmt4b1, 601382) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1100. en:genetic heterogeneity (see hhf1 256450) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1101. en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1102. en:genetic heterogeneity (see lgmd1a 159000 for overview) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1103. en:genetic heterogeneity (see npc1, 257220) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1104. en:genetic heterogeneity (see psnp1 601104) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1105. en:genetic heterogeneity (see rmd1, 600332) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1106. en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1107. en:genetic heterogeneity, see mgr1 (157300) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1108. en:genetic heterogeneity, see spg5a (270800) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1109. en:gestational age:time:pt:^fetus:qn:amniocentesis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1110. en:glucocorticoid deficiency occurs in mid-childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1111. en:good response to immunotherapy (intravenous igg or plasmapheresis) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1112. en:group b, found in france and united kingdom, severe phenotype --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1113. en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1114. en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1115. en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1116. en:heterozygotes have half-normal levels of apob-containing lipoproteins --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1117. en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1118. en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1119. en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1120. en:heterozygous mutation present in 5-7% of the japanese population --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1121. en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1122. en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1123. en:high pain threshold --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high pain threshold | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1124. en:high prevalence in the east asian population --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high prevalence in the east asian population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1125. en:highest incidence in men of european descent --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highest incidence in men of european descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1126. en:highly variable organ involvement and severity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable organ involvement and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1127. en:highly variable phenotype and severity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1128. en:highly variable phenotype, ranging from asymptomatic to death by age 3 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1129. en:highly variable severity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1130. en:hyperthermia in early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperthermia in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1131. en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1132. en:incidence 1 in 6,000 to 1 in 8,000 live births --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1133. en:incidence 2-5% of north american children --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 2-5% of north american children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1134. en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1135. en:incidence of 1 in 500,000 live births --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 500,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1136. en:incidence of 1 per 10,000 births in japan --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 per 10,000 births in japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1137. en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1138. en:incomplete penetrance of optic atrophy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance of optic atrophy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1139. en:incomplete, age-associated penetrance --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete, age-associated penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1140. en:increased susceptibility to malignant hyperthermia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to malignant hyperthermia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1141. en:increased susceptibility to neisseria infections --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to neisseria infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1142. en:infantile form usually leads to death by age 2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile form usually leads to death by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1143. en:infants may die from apnea or aspiration --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants may die from apnea or aspiration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1144. en:infections may precipitate ketotic episodes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infections may precipitate ketotic episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1145. en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1146. en:itch, pain, and body malodor often --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:itch, pain, and body malodor often | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1147. en:kid syndrome and hid syndrome are identical at the molecular level --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1148. en:later onset (late childhood to young adult) has been reported --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset (late childhood to young adult) has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1149. en:later onset of hearing loss in some patients --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset of hearing loss in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1150. en:later onset of ophthalmoparesis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset of ophthalmoparesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1151. en:leakage of fluid ('gusher') if the stapes is disturbed --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1152. en:leigh syndrome, x-linked --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:leigh syndrome, x-linked | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1153. en:lesions become more prominent with sun exposure --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions become more prominent with sun exposure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1154. en:life-threatening in infancy due to sepsis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:life-threatening in infancy due to sepsis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1155. en:lifelong occurrence --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifelong occurrence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1156. en:majority of cases have been sporadic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases have been sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1157. en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1158. en:male to female ratio 21:8 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male to female ratio 21:8 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1159. en:male-to-female ratio of 3:2 in childhood cases --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1160. en:manifestations present in second decade of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:manifestations present in second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1161. en:many patients become wheelchair-bound by second or third decade --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients become wheelchair-bound by second or third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1162. en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1163. en:maternal uniparental disomy (upd)7 reported in some cases --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1164. en:may coexist with autoimmune vitiligo or thyroiditis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1165. en:may fade with age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may fade with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1166. en:may present in infancy with episodes of severe metabolic decompensation --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1167. en:may regress --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may regress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1168. en:mean age at onset of dementia is 57 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of dementia is 57 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1169. en:mean age at termination 3 to 4 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at termination 3 to 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1170. en:mean age of diagnosis 40 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of diagnosis 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1171. en:mean age of onset 35-40 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 35-40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1172. en:mean age of onset 50.2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 50.2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1173. en:mean age of onset 56 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 56 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1174. en:mean age of onset, 5 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset, 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1175. en:mechanical ventilation may be required --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mechanical ventilation may be required | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1176. en:median age at onset is 21 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age at onset is 21 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1177. en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1178. en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1179. en:mild disease course --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild disease course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1180. en:mild phenotype onset - 11-18 months --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild phenotype onset - 11-18 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1181. en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1182. en:moderate age-related improvement of pancreatic function --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:moderate age-related improvement of pancreatic function | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1183. en:more frequent in females --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more frequent in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1184. en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1185. en:most common cancer in men aged 15-40 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common cancer in men aged 15-40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1186. en:most patients become wheelchair-bound --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1187. en:most patients become wheelchair-bound in adolescence --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1188. en:most patients die in early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1189. en:most patients lose ambulation 2 years after onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients lose ambulation 2 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1190. en:most types show autosomal dominant inheritance --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most types show autosomal dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1191. en:motor developmental delay --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor developmental delay | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1192. en:motor symptoms are variable --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor symptoms are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1193. en:motor symptoms show mild clinical improvement with levodopa treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1194. en:multiple seizures daily at onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple seizures daily at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1195. en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1196. en:mutant alleles have 47 to 63 repeats --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutant alleles have 47 to 63 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1197. en:myasthenic syndromes, congenital, slow channel --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:myasthenic syndromes, congenital, slow channel | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1198. en:nails, palms, and soles are spared in some patients --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nails, palms, and soles are spared in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1199. en:neonatal and late-infantile onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal and late-infantile onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1200. en:neonatal/infantile death in most patients --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal/infantile death in most patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1201. en:neurologic features have been diagnosed in ~30% of cases --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1202. en:no chronic or permanent liver damage --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no chronic or permanent liver damage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1203. en:no peripheral signs of hypothyroidism --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no peripheral signs of hypothyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1204. en:normal alleles have 4 to 18 repeats --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles have 4 to 18 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1205. en:not all patients have a myopathy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not all patients have a myopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1206. en:not responsive to biotin treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not responsive to biotin treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1207. en:number of episodes varies from 1 to many (up to 20) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1208. en:nystagmus may disappear by mid-childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nystagmus may disappear by mid-childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1209. en:obligatory heterozygotes are clinically unaffected --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:obligatory heterozygotes are clinically unaffected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1210. en:occurs in 1 in 50,000 newborn males --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in 1 in 50,000 newborn males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1211. en:occurs in full-term infants --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in full-term infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1212. en:ocular abnormalities may be very mild --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ocular abnormalities may be very mild | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1213. en:often associated with klippel-feil anomaly (118100) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often associated with klippel-feil anomaly (118100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1214. en:often associated with syringomyelia (186700) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often associated with syringomyelia (186700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1215. en:often refractory to medical therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often refractory to medical therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1216. en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1217. en:one brazilian family with 12 affected individuals reported (last curated february 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1218. en:one consanguineous turkish family has been reported (last curated december 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1219. en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1220. en:one family from hong kong has been reported (last curated october 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1221. en:one family has been reported (last curated march 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated march 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1222. en:one family has been reported (last curated november 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1223. en:one family has been reported (last curated november 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1224. en:one family has been reported (last curated october 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1225. en:one family has been reported (last curated september 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1226. en:one family of puerto rican descent has been reported (last curated january 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1227. en:one family reported (last curated january 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1228. en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1229. en:one japanese family has been reported (last curated december 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one japanese family has been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1230. en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1231. en:one large family has been reported (as of 2008) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large family has been reported (as of 2008) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1232. en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1233. en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1234. en:one of the most common autoimmune diseases --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one of the most common autoimmune diseases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1235. en:one pakistani reported (last curated november 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one pakistani reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1236. en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1237. en:one patient described (last curated december 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient described (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1238. en:one patient has been reported (last curated july 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1239. en:onset 10-20 years of age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 10-20 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1240. en:onset 6 months to 2.5 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 6 months to 2.5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1241. en:onset at 6-36 hours of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 6-36 hours of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1242. en:onset between 12 and 30 years (average 22) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 12 and 30 years (average 22) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1243. en:onset between 5 to 28 years of age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 5 to 28 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1244. en:onset between 7 and 18 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 7 and 18 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1245. en:onset between 9 and 16 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 9 and 16 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1246. en:onset between ages 12 and 20 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between ages 12 and 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1247. en:onset between second to sixth decades of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between second to sixth decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1248. en:onset between the second and sixth decades --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between the second and sixth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1249. en:onset by 1 year of age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset by 1 year of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1250. en:onset in 1st to 3rd decade of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in 1st to 3rd decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1251. en:onset in childhood (mean 6 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (mean 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1252. en:onset in childhood (range 0.5 to 7 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1253. en:onset in childhood (range infancy to 10 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range infancy to 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1254. en:onset in childhood (usually before age 5 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (usually before age 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1255. en:onset in childhood or adolescence (range 6 to 15 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1256. en:onset in early childhood (4 to 5 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (4 to 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1257. en:onset in early childhood after initial normal development --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood after initial normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1258. en:onset in first decade (average 5 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade (average 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1259. en:onset in infancy (average 4 months, but may be earlier) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1260. en:onset in late adulthood (44 to 73 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late adulthood (44 to 73 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1261. en:onset in late childhood or early teens --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late childhood or early teens | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1262. en:onset in the first 2 years of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1263. en:onset in the first or second decades of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first or second decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1264. en:onset in utero or at birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in utero or at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1265. en:onset in utero or in infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in utero or in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1266. en:onset in utero, infancy, or early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in utero, infancy, or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1267. en:onset of ataxia in early childhood (range 15 months to 3 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1268. en:onset of ataxia in the fifties --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of ataxia in the fifties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1269. en:onset of cardiomyopathy may occur several months after birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1270. en:onset of deafness in early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of deafness in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1271. en:onset of disease 3-30 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease 3-30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1272. en:onset of gait abnormalities at 8 to 40 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1273. en:onset of illness often associated with acute infection --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of illness often associated with acute infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1274. en:onset of motor disturbances in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of motor disturbances in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1275. en:onset of neurologic symptoms often by 30 months --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of neurologic symptoms often by 30 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1276. en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1277. en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1278. en:onset of seizures in first months of life (usually 4 to 7 months) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1279. en:onset of sleep terrors between age 4 and 12 years old --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1280. en:onset of symptoms usually between 12-15 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms usually between 12-15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1281. en:onset of symptoms within the first 2 decades of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms within the first 2 decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1282. en:onset ranges from first to third decade --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from first to third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1283. en:onset soon after birth or within the first year of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset soon after birth or within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1284. en:onset usually by age 2 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1285. en:onset usually in adulthood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1286. en:onset usually in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1287. en:onset usually in childhood (range infancy to late childhood) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1288. en:onset usually in early childhood (but can range from infancy to adolescence) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in early childhood (but can range from infancy to adolescence) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1289. en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1290. en:onset usually in second or third decades --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in second or third decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1291. en:onset within first 3 months of life --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within first 3 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1292. en:overlapping clinical spectrum and allelic to masa syndrome (303350) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1293. en:partial laminin alpha-2 deficiency results in milder phenotype --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1294. en:paternal age effect --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:paternal age effect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1295. en:pathogenic alleles contain 52 to 86 repeats --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1296. en:patients are born with normal head circumference --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are born with normal head circumference | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1297. en:patients are susceptible to sepsis and dehydration --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are susceptible to sepsis and dehydration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1298. en:patients become wheelchair-bound about 10 years after onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1299. en:patients between 30 and 60 years have discomfort with prolonged standing --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1300. en:patients develop aortic dissection with little or no aortic enlargement --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1301. en:patients gradually develop tolerance to carbohydrates over time --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1302. en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1303. en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1304. en:patients may have recurrent infections due to immunosuppressive therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1305. en:patients may present with autoimmune features or primary immunodeficiency --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1306. en:patients may show normal development --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may show normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1307. en:patients often have a more severe and complicated phenotype in addition to peo --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1308. en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1309. en:patients usually require total thyroidectomy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients usually require total thyroidectomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1310. en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1311. en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1312. en:patients with homozygous mutations have a more severe disorder --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with homozygous mutations have a more severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1313. en:patients with medication-resistant hypertension require bilateral adrenalectomy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1314. en:patients with null mutations have neonatal onset within 72 hours of birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1315. en:patients with residual enzyme activity have childhood or adult onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1316. en:peak age of onset in second decade (range childhood to 50 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1317. en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1318. en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1319. en:percentages based on review of 51 published cases (pmid 24891339) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1320. en:performing laboratory medical director:id:pt:facility:nom --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1321. en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1322. en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1323. en:phenotypic overlap with denys-drash syndrome (194080). --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1324. en:pigmentary abnormalities apparent at birth or in infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1325. en:pneumocytosis carinii infection (12 to 42%) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1326. en:possible defect of a specific lipase in the pathway of free fatty acid oxidation --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1327. en:possible x-linked inheritance --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible x-linked inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1328. en:precipitated by general anesthesia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by general anesthesia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1329. en:prenatal diagnosis by ultrasound --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal diagnosis by ultrasound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1330. en:presents at 2 to 3 months of age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents at 2 to 3 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1331. en:prevalence estimated at 1 in 86,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence estimated at 1 in 86,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1332. en:prevalence in finland is 1 in 25,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in finland is 1 in 25,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1333. en:prevalence in slovenia is 1 in 43,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1334. en:prevalence of 1 in 240 zuni indians --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 240 zuni indians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1335. en:prevalence of 1 in 30,000 in northern europe --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1336. en:prevalence of 1 in 300,000 in quebec --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 300,000 in quebec | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1337. en:prevalence of 2-7% in english-speaking preschool children --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1338. en:progression in adulthood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1339. en:progressive cerebellar ataxia --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive cerebellar ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1340. en:progressive clinical course with onset in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive clinical course with onset in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1341. en:progressive disease --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1342. en:progressive or slowly progressive --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive or slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1343. en:progressive sclerosis with age --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive sclerosis with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1344. en:psychiatric symptoms may be the presenting sign --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:psychiatric symptoms may be the presenting sign | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1345. en:psychomotor delay may already be apparent at onset of seizures --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1346. en:rapidly progressive episodes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1347. en:rare adult cases reported --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare adult cases reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1348. en:rare patients with homozygous null mutations have most severe disease --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1349. en:recurrent bacterial infection --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent bacterial infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1350. en:recurrent bacterial infections beginning in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent bacterial infections beginning in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1351. en:reduced penetrance in females --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1352. en:renal involvement and coloboma may not be present --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:renal involvement and coloboma may not be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1353. en:reported in 2 sibs (february 1991) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in 2 sibs (february 1991) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1354. en:reported in individuals of amish or mennonite descent --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in individuals of amish or mennonite descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1355. en:reported in individuals of jewish moroccan ancestry --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in individuals of jewish moroccan ancestry | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1356. en:reported in the ohio amish anabaptist community --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in the ohio amish anabaptist community | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1357. en:retinal degeneration not always present --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinal degeneration not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1358. en:risk of sudden death --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of sudden death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1359. en:risk of sudden death due to cardiac arrhythmias --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1360. en:risk of sudden death in childhood due to cardiac arrest --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1361. en:see (277600) for a phenotypically similar autosomal recessive form --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1362. en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1363. en:see also autosomal dominant form (160800), which is less common and less severe --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1364. en:see also autosomal dominant giant axonal neuropathy (610100) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1365. en:see also autosomal recessive robinow syndrome (268310) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1366. en:see also lethal neonatal (608836) and adult forms (255110) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1367. en:see also optic atrophy 1 (165500), an allelic disorder without deafness --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1368. en:see also optic atrophy with deafness (125250), an allelic disorder --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1369. en:see also perinatal lethal variant (608013), which is more severe --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1370. en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1371. en:see also x-linked edmd (310300) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked edmd (310300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1372. en:seizures are refractory to medication --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are refractory to medication | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1373. en:seizures may occur with illness --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may occur with illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1374. en:seizures remit in early childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures remit in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1375. en:seizures usually remit in adolescence --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures usually remit in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1376. en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1377. en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1378. en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1379. en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1380. en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1381. en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1382. en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1383. en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1384. en:seventy percent of cases are stillborn --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seventy percent of cases are stillborn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1385. en:severe course --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1386. en:severe incapacitation in 10-20 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe incapacitation in 10-20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1387. en:sex ratio - 2 females to 1 male --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sex ratio - 2 females to 1 male | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1388. en:sex ratio - 2.3 males-to-1 female --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sex ratio - 2.3 males-to-1 female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1389. en:skin appears normal at birth, with development of generalized ichthyosis in childhood --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1390. en:small placenta --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:small placenta | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1391. en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1392. en:some heterozygous cpt2 mutation carriers may be symptomatic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1393. en:some patients experience later reversal of hypogonadotropic hypogonadism --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1394. en:some patients have additional neurologic involvement --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have additional neurologic involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1395. en:some patients have an attenuated phenotype --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have an attenuated phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1396. en:some patients have isolated cfeom --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have isolated cfeom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1397. en:some patients may have residual muscle weakness --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have residual muscle weakness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1398. en:some patients may respond to thiamine treatment --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may respond to thiamine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1399. en:some patients show delayed development from birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show delayed development from birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1400. en:some patients show improvement during summer or with fever --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show improvement during summer or with fever | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1401. en:some patients survive infancy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients survive infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1402. en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1403. en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1404. en:spasticity occurs before parkinsonism --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spasticity occurs before parkinsonism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1405. en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1406. en:stage ii, rapid developmental regression (onset 1-4 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1407. en:stillborn or death shortly after birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stillborn or death shortly after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1408. en:subclavian artery supply disruption in embryogenesis has been suggested as etiology --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1409. en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1410. en:subtype of migraine with aura --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtype of migraine with aura | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1411. en:sudden death due to cardiomyopathy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death due to cardiomyopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1412. en:symptoms develop immediately after birth --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms develop immediately after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1413. en:symptoms improve following sleep --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms improve following sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1414. en:symptoms may be aggravated by acute illness --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms may be aggravated by acute illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1415. en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1416. en:symptoms may decrease after age 30 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms may decrease after age 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1417. en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1418. en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1419. en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1420. en:symptoms progress with worsening myopathy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms progress with worsening myopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1421. en:symptoms relieved by ovarian suppression --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms relieved by ovarian suppression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1422. en:symptoms usually occur in adults --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually occur in adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1423. en:systemic iron overload due to ineffective erythropoiesis --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1424. en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1425. en:this specific disorder has been described in 1 family (ke) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:this specific disorder has been described in 1 family (ke) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1426. en:three families described (last curated january 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families described (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1427. en:three families have been reported (as of 28 june 2011) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (as of 28 june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1428. en:three families have been reported (last curated july 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1429. en:three patients (2 related) reported (last curated march 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1430. en:three patients from 2 families have been reported (last curated december 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1431. en:three patients reported, one with a wdpcp mutation (last curated january 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1432. en:three times more common in males --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three times more common in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1433. en:three unrelated families have been reported (last curated january 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1434. en:three unrelated families have been reported (last curated june 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1435. en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1436. en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1437. en:three unrelated patients have been reported (last curated july 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1438. en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1439. en:treatment with bh4 is effective --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with bh4 is effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1440. en:treatment with enzyme replacement therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with enzyme replacement therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1441. en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1442. en:treatment with sulfonylurea can be effective --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with sulfonylurea can be effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1443. en:treatment with vitamin d and phosphate is effective --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with vitamin d and phosphate is effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1444. en:truncating mutations in crebbp found in 10% of patients --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1445. en:two arab muslim families have been reported (last curated october 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1446. en:two families described (last curated july 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families described (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1447. en:two families have been reported (as of may 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1448. en:two families have been reported (last curated january 2011) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated january 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1449. en:two families of canadian origin have been reported (last curated may 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1450. en:two families of french-canadian origin have been reported (last curated december 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1451. en:two families reported (last curated august 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1452. en:two japanese brothers have been reported (as of september 2011) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1453. en:two jordanian sibs have been reported (last curated november 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1454. en:two pakistani families reported (last curated july 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two pakistani families reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1455. en:two probands have been reported --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two probands have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1456. en:two sibs have been reported (last curated july 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1457. en:two sibs have been reported (last curated november 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (last curated november 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1458. en:two unrelated chinese families have been reported (last curated november 2013) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1459. en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1460. en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1461. en:two unrelated patients have been reported (last curated december 2012) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1462. en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1463. en:type 2a is characterized by deficiency of high molecular weight monomers --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1464. en:type i onset at 8 to 15 months of age after normal development --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1465. en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1466. en:type ii is adult-onset (kanzaki disease, 609242) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1467. en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1468. en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1469. en:unusual cabbage-like odor --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:unusual cabbage-like odor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1470. en:usually affects children --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually affects children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1471. en:usually clinically asymptomatic --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually clinically asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1472. en:usually occurs in children younger than 5 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually occurs in children younger than 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1473. en:usually sporadic disorder resulting from de novo 22q11.2 deletion --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1474. en:variable age at onset (infant to adult) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (infant to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1475. en:variable age at onset (range 2 to 59 years, mean 24 years) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1476. en:variable age at onset (range infancy to adulthood) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range infancy to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1477. en:variable age at onset (range teens to late adult) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range teens to late adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1478. en:variable age at onset, ranging from 18 months to 27 years --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1479. en:variable age of onset of renal manifestations --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset of renal manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1480. en:variable cardiac defects --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable cardiac defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1481. en:variable penetrance and expressivity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable penetrance and expressivity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1482. en:variable presentation and evolution of symptoms --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable presentation and evolution of symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1483. en:variable progression --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1484. en:variable response to vitamin b12 therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable response to vitamin b12 therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1485. en:variable severity that correlates with rate and magnitude of neuronal protein accumulation --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1486. en:variable survival (some neonatal lethality) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable survival (some neonatal lethality) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1487. en:variably expressivity --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variably expressivity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1488. en:variant at may present with dystonia only --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variant at may present with dystonia only | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1489. en:vasculitic symptoms are associated with cold exposure (in some patients) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1490. en:vhl type 1 - renal carcinoma and hemangioblastoma --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1491. en:worldwide frequency of 1 in 2,000,000 --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1492. en:worldwide incidence of 1 in 185,000 live births --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1493. en:worsened by immunosuppressive therapy --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worsened by immunosuppressive therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1494. rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 29 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29
  1495. en:20-40% patients are asymptomatic --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:20-40% patients are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1496. en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1497. en:70% due to de novo maternal deletion of 15q11.2-q13 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1498. en:78% due to chromosome 14 maternal uniparental disomy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1499. en:a milder form has also been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a milder form has also been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1500. en:a minority of patients have onset after age 30 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a minority of patients have onset after age 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1501. en:a subgroup of patients with sponastrime dysplasia have severe mental retardation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1502. en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1503. en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1504. en:about a dozen patients have been reported (as of march 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1505. en:accounts for approximately 5% of the epilepsies --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for approximately 5% of the epilepsies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1506. en:acute encephalopathic episodes may occur --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acute encephalopathic episodes may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1507. en:adult form onset has after 20 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult form onset has after 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1508. en:adult onset (18 to 60 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (18 to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1509. en:adult onset (37 to 57 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (37 to 57 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1510. en:adult onset (range 15 to 53 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 15 to 53 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1511. en:adult onset (range 30 to 50 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 30 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1512. en:adult onset has been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1513. en:adult onset of gait abnormalities --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset of gait abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1514. en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1515. en:affected infants die in neonatal period --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected infants die in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1516. en:affects 1 to 3% of the population --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affects 1 to 3% of the population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1517. en:age at menarche:time:point in time:^patient:quantitative --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1518. en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1519. en:age at onset can range from infancy to childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset can range from infancy to childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1520. en:age at onset in females ranges from childhood to the fourth decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1521. en:age at onset in males ranges from 3 to 7 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset in males ranges from 3 to 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1522. en:age at onset ranges from childhood to adulthood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset ranges from childhood to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1523. en:age of onset 20-65 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 20-65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1524. en:age of onset 23-59 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 23-59 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1525. en:age of onset 30 to 60 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 30 to 60 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1526. en:age of onset between 5 and 10 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset between 5 and 10 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1527. en:aggravated by physical activity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:aggravated by physical activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1528. en:all cases occur in a jewish religious isolate originally from cochin, india --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1529. en:all cases presumed de novo mutation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases presumed de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1530. en:all reported cases result from de novo mutation (last curated july 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1531. en:allelic disorder is long qt syndrome-3 (lqt3, 603830) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1532. en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1533. en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1534. en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1535. en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1536. en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1537. en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1538. en:allelic disorder to niemann-pick disease type a (257200) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1539. en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1540. en:allelic disorder to type iv glycogen storage disease (232500) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1541. en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1542. en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1543. en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1544. en:allelic to autosomal recessive pxe (264800) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to autosomal recessive pxe (264800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1545. en:allelic to bardet-biedl syndrome 6 (209900) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1546. en:allelic to brachydactyly, type a2 (112600) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1547. en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1548. en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1549. en:allelic to infantile sialic acid storage disorder (269920) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1550. en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1551. en:allelic to mucolipidosis ii (252500) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to mucolipidosis ii (252500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1552. en:allelic to mucopolysaccharidosis ivb --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to mucopolysaccharidosis ivb | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1553. en:allelic to osteopetrosis (259700) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to osteopetrosis (259700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1554. en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1555. en:allelic to pachyonychia congenita jackson-lawler type (167210) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1556. en:allelic to robinow syndrome, autosomal recessive (268310) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1557. en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1558. en:approximately half of cases are due to de novo deletions --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately half of cases are due to de novo deletions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1559. en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1560. en:asymptomatic if papillary zone is spared --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic if papillary zone is spared | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1561. en:ataxia is slowly progressive --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ataxia is slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1562. en:attacks rarely occur before puberty (hcp) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks rarely occur before puberty (hcp) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1563. en:atypical affected males, 'cardiac variants' 301500.0005 exist --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1564. en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1565. en:autosomal dominant inheritance has been reported in a single family --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1566. en:autosomal dominant with complete penetrance --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant with complete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1567. en:autosomal recessive disorder tends to be more severe --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive disorder tends to be more severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1568. en:autosomal recessive inheritance (245600) has also been suggested --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1569. en:average age at onset 18.6 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 18.6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1570. en:average age at onset 31 years (range 7 to 54) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 31 years (range 7 to 54) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1571. en:average age of onset 15 years (range 4 to 40) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age of onset 15 years (range 4 to 40) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1572. en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1573. en:based on description of 1 family (last curated april 2006) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on description of 1 family (last curated april 2006) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1574. en:based on four patients in a four generation family --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on four patients in a four generation family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1575. en:based on one finnish family --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one finnish family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1576. en:based on report of 1 saudi arabian family (last curated february 2015) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1577. en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1578. en:based on the report of one lebanese family (last curated october 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1579. en:benign trait --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:benign trait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1580. en:bleeding is usually delayed-onset after challenge --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bleeding is usually delayed-onset after challenge | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1581. en:both autosomal dominant and autosomal recessive inheritance have been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1582. en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1583. en:bullae are located randomly in familial cases and apical in sporadic cases --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1584. en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1585. en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1586. en:carrier females are normal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females are normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1587. en:carrier frequency in finland is 1 in 230 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier frequency in finland is 1 in 230 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1588. en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1589. en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1590. en:caused by somatic mutations --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by somatic mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1591. en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1592. en:central hypoventilation occurs late in the disease and is often fatal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1593. en:childhood onset (range birth to 12 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset (range birth to 12 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1594. en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1595. en:chronic disease --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chronic disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1596. en:citation:bib:pt:reference lab test:nar --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:citation:bib:pt:reference lab test:nar | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1597. en:clinical and biochemical abnormalities improve with age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical and biochemical abnormalities improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1598. en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1599. en:color vision defects may not be part of the phenotype --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:color vision defects may not be part of the phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1600. en:communication board, non-electronic augmentative or alternative communication device --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1601. en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1602. en:contiguous gene duplication syndrome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene duplication syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1603. en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1604. en:corneal steepening is proportional to the degree of axial foreshortening --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1605. en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1606. en:de novo deletions in 8% of patients (preferentially paternally derived) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1607. en:death due to respiratory insufficiency within minutes to hours after birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1608. en:death in early infancy (in some patients) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in early infancy (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1609. en:death in fourth to fifth decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in fourth to fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1610. en:death in majority of infants soon after birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in majority of infants soon after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1611. en:death in the fifth or sixth decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in the fifth or sixth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1612. en:death may occur in early infancy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death may occur in early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1613. en:death secondary to respiratory insufficiency --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death secondary to respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1614. en:death usually associated with cardiogenic shock preceded by arrhythmia --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually associated with cardiogenic shock preceded by arrhythmia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1615. en:death usually in early childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1616. en:death usually occurs in first decade of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs in first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1617. en:deletions in naip gene (600355) found in 18% of sma2 patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1618. en:detected in 1/50,000 in neonatal screening programs --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1619. en:diagnosis occurs between 23 and 33 weeks' gestation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1620. en:diagnosis within the first 3 months of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis within the first 3 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1621. en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1622. en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1623. en:disability by end of first decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disability by end of first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1624. en:disease exacerbation during summer due to heat --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease exacerbation during summer due to heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1625. en:distinct disorder from myasthenia gravis (mg, 254200) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1626. en:dysmorphic facial features may not be present --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic facial features may not be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1627. en:earlier onset is rare --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset is rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1628. en:early adult onset has been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early adult onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1629. en:early childhood onset (before age 5 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early childhood onset (before age 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1630. en:early death from respiratory failure may occur --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death from respiratory failure may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1631. en:early death in males --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1632. en:early diagnosis and treatment prevent many complications --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early diagnosis and treatment prevent many complications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1633. en:early lethality in most cases --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early lethality in most cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1634. en:early-onset associated with more severe course and early death --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early-onset associated with more severe course and early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1635. en:end-stage renal failure may occur --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:end-stage renal failure may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1636. en:episodes are triggered by cold exposure --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes are triggered by cold exposure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1637. en:episodes last about 1.5 hours --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes last about 1.5 hours | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1638. en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1639. en:exacerbation at puberty --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbation at puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1640. en:excessive posttraumatic blood loss --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:excessive posttraumatic blood loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1641. en:exercise intolerance often evident in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exercise intolerance often evident in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1642. en:exon 7 of smn1 is absent in 95.6% of sma1 patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1643. en:extracutaneous manifestations are variable --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:extracutaneous manifestations are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1644. en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1645. en:f syndrome (102510) has many overlapping features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:f syndrome (102510) has many overlapping features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1646. en:familial form - constitutional deficiency of vwf-cleaving protease --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1647. en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1648. en:fatal in first few months of life in most cases --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal in first few months of life in most cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1649. en:favorable response to alcohol in about 50% --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to alcohol in about 50% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1650. en:favorable response to immunotherapy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to immunotherapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1651. en:favorable response to l-dopa treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to l-dopa treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1652. en:favorable response to treatment with minocycline or azithromycin --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1653. en:favorable response to ursodeoxycholic acid treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1654. en:features occur episodically --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features occur episodically | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1655. en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1656. en:features usually appear during adulthood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features usually appear during adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1657. en:febrile attacks disappear in adulthood in some patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:febrile attacks disappear in adulthood in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1658. en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1659. en:febrile seizures show onset between 6 months and 3 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1660. en:female carriers are unaffected or show neuropsychiatric features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1661. en:female carriers may have cardiac defects --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have cardiac defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1662. en:female carriers may have short stature and premature ovarian failure --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have short stature and premature ovarian failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1663. en:female carriers may show some manifestations, such as hearing impairment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1664. en:five patients have been reported (last curated december 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five patients have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1665. en:five reported patients, all boys (as of july 2009) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five reported patients, all boys (as of july 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1666. en:fluoxetine therapy is effective --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fluoxetine therapy is effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1667. en:following fever in infancy, muscular weakness and poor growth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1668. en:food related behavioral problems include excessive appetite and obsession with eating --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1669. en:founder effect in irish traveler population --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:founder effect in irish traveler population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1670. en:four patients from 2 unrelated families have been reported (last curated april 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1671. en:four patients from 3 families have been reported (last curated september 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1672. en:four patients have been reported (last curated june 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients have been reported (last curated june 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1673. en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1674. en:fractures occur in first few months, then decrease in frequency and then occur with ambulation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1675. en:frequently occurs in navajo children, especially in western reservations --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1676. en:genetic heterogeneity (see 161400) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 161400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1677. en:genetic heterogeneity (see 161800) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 161800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1678. en:genetic heterogeneity (see cms1a1, 605809) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1679. en:genetic heterogeneity (see ebn2 121201, ebn3 608217) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1680. en:genetic heterogeneity (see feb1 121210) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see feb1 121210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1681. en:genetic heterogeneity (see hht1, 187300) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1682. en:genetic heterogeneity (see madb, 608612) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see madb, 608612) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1683. en:genetic heterogeneity (see ofc1, 119530) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1684. en:genetic heterogeneity (see pfic1, 211600) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1685. en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1686. en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1687. en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1688. en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1689. en:genetic heterogeneity, see lgmd2a (253600) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1690. en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1691. en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1692. en:good response to clonazepam --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to clonazepam | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1693. en:good seizure control with medication --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good seizure control with medication | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1694. en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1695. en:green color resolves if cholestasis is treated --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:green color resolves if cholestasis is treated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1696. en:group b patients die by 3 months of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:group b patients die by 3 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1697. en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1698. en:hearing loss affects all frequencies --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss affects all frequencies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1699. en:hearing loss is pre- or perilingual in onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss is pre- or perilingual in onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1700. en:hearing loss is variable --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss is variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1701. en:hepatic failure develops in first months of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hepatic failure develops in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1702. en:heterogeneous disorder --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterogeneous disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1703. en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1704. en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1705. en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1706. en:heterozygous female carriers may manifest symptoms --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous female carriers may manifest symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1707. en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1708. en:high frequency in finnish population --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in finnish population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1709. en:high frequency of de novo mutations --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency of de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1710. en:high prevalence in charlevoix-saguenay region of northeastern quebec --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1711. en:highly penetrant, but low morbidity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly penetrant, but low morbidity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1712. en:highly variable phenotype and age of onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype and age of onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1713. en:highly variable phenotype and severity, even within families --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype and severity, even within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1714. en:highly variable phenotype in females --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1715. en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1716. en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1717. en:highly variable phenotype with regard to pigmentation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype with regard to pigmentation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1718. en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1719. en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1720. en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1721. en:hypogonadism reported in a large swedish kindred --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypogonadism reported in a large swedish kindred | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1722. en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1723. en:immunodeficiency is progressive --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:immunodeficiency is progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1724. en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1725. en:impaired healing --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:impaired healing | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1726. en:in some patients, qtc interval is prolonged only during exercise testing --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1727. en:incidence 1/20,000-1/64,000 male births --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1/20,000-1/64,000 male births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1728. en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1729. en:incidence of 1 in 100,000 births in caucasians --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1730. en:incidence of 1 in 20,000 live births --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 20,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1731. en:incidence of 1 in 300,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 300,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1732. en:incidence of 1 in 39,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 39,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1733. en:incidence of 12.2 per 100,000 in finland --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 12.2 per 100,000 in finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1734. en:incidence of all forms of cjd is 0.5 to 1.5 per million per year --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1735. en:incidence ranges from 1 in 8,500 to 1 in 12,000 births --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1736. en:incidence worldwide of 1 in 30,000 to 50,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1737. en:incidence, 1 in 650-1000 live births --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence, 1 in 650-1000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1738. en:incomplete penetance of some features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetance of some features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1739. en:incomplete penetrance --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1740. en:incomplete penetrance in carrier females --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance in carrier females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1741. en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1742. en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1743. en:increased frequency in the dariusleut hutterites (canada) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1744. en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1745. en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1746. en:increased risk of developing early-onset aggressive cancers --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of developing early-onset aggressive cancers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1747. en:increased susceptibility to multiple carcinomas --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to multiple carcinomas | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1748. en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1749. en:infants are stillborn or die shortly after birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants are stillborn or die shortly after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1750. en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1751. en:initial development may appear normal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initial development may appear normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1752. en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1753. en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1754. en:juvenile myoclonic epilepsy (jme, 606904) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1755. en:juvenile onset 4 years to puberty --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile onset 4 years to puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1756. en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1757. en:ketogenic diet may be effective --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ketogenic diet may be effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1758. en:late adult onset (after age 55 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late adult onset (after age 55 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1759. en:late onset combined immunodeficiency with allelic variant 102700.0020 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1760. en:left side involvement associated with serious cardiac defect --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:left side involvement associated with serious cardiac defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1761. en:length of attack, 3 to 7 days --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:length of attack, 3 to 7 days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1762. en:lesions grow and spread with age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions grow and spread with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1763. en:lethal in the neonatal period --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lethal in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1764. en:levodopa-responsive --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:levodopa-responsive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1765. en:lifetime risk of breast cancer in male mutation carriers in 6% --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1766. en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1767. en:liver disease may be the most predominant finding --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver disease may be the most predominant finding | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1768. en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver size returns to normal after 3 months to 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1769. en:long duration --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:long duration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1770. en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lower limb involvement occurs before upper limb involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1771. en:lower limbs more severely affected --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lower limbs more severely affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1772. en:majority cases are sporadic --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority cases are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1773. en:majority of cases in the afrikaner population of south africa --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases in the afrikaner population of south africa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1774. en:majority of children die before age 2 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of children die before age 2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1775. en:majority of patients develop symptoms within the first few weeks of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1776. en:majority of por deficiency patients have an abs-like phenotype --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1777. en:male infertility --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male infertility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1778. en:male patients have more severe disease than female patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male patients have more severe disease than female patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1779. en:male to female ratio is greater than 3:1 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male to female ratio is greater than 3:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1780. en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male-to-female ratio, 1.8 to 1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1781. en:males tend to have earlier onset than females --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males tend to have earlier onset than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1782. en:many patients are asymptomatic --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1783. en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1784. en:marked favorable response to l-dopa treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked favorable response to l-dopa treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1785. en:marked variability in the deletion size --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked variability in the deletion size | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1786. en:maternal oligohydramnios --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal oligohydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1787. en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1788. en:may be same disorder as autosomal recessive optic atrophy 3 (258501) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1789. en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1790. en:mean age of onset 21 years (range 14-35 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1791. en:median age at diagnosis 7 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age at diagnosis 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1792. en:median age at onset 23 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age at onset 23 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1793. en:median age of diagnosis is 28 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of diagnosis is 28 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1794. en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1795. en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1796. en:middle age onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:middle age onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1797. en:minimum duplication includes bhlha9 (615416) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:minimum duplication includes bhlha9 (615416) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1798. en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1799. en:miscellaneous --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:miscellaneous | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1800. en:most common form of childhood idiopathic epilepsy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of childhood idiopathic epilepsy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1801. en:most common inherited bleeding disorder --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common inherited bleeding disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1802. en:most common terminal deletion syndrome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common terminal deletion syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1803. en:most patients are asymptomatic and are detected by newborn screening --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1804. en:most patients become wheelchair-bound after 20 to 30 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1805. en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1806. en:most patients die in infancy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1807. en:most patients have a family history of fragile x syndrome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have a family history of fragile x syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1808. en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1809. en:most patients have severe streptococcus pneumoniae infections --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1810. en:most patients remain ambulatory --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients remain ambulatory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1811. en:most patients require ambulatory aids about 10 years after onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients require ambulatory aids about 10 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1812. en:most patients require liver transplant in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients require liver transplant in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1813. en:most patients show early childhood onset after a period of normal development --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients show early childhood onset after a period of normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1814. en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1815. en:muscle contractions in infancy occur in response to tactile stimulation or crying --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1816. en:nails may be intermittently involved --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nails may be intermittently involved | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1817. en:near-normoglycemic remission for period of months to years without insulin treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1818. en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1819. en:no abnormalities of hair, teeth, or bones --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no abnormalities of hair, teeth, or bones | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1820. en:no dysmorphic features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1821. en:no features consistent with cystic fibrosis found in these patients --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1822. en:normal alleles contain up to 30 repeats --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles contain up to 30 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1823. en:normal at birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1824. en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1825. en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1826. en:normal in neonatal period --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1827. en:normal sweat electrolytes --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal sweat electrolytes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1828. en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1829. en:occurs in women and is triggered by pregnancy or estrogen therapy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1830. en:one 5-generation chinese family reported (last curated november 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1831. en:one 9-generation family and 1 isolated patient described (last curated march 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1832. en:one canadian mennonite family has been reported (last curated november 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1833. en:one compound heterozygous patient reported (last curated february 2015) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1834. en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1835. en:one consanguineous pakistani reported (last curated july 2015) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1836. en:one family from the old order amish has been reported (last curated january 2015) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1837. en:one family has been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1838. en:one family has been reported (as of january 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1839. en:one family has been reported (as of june 2011) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1840. en:one family has been reported with limited clinical information (last curated october 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1841. en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1842. en:one family with 4 affected sibs has been reported (as of april 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1843. en:one french family has been reported (last curated july 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one french family has been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1844. en:one large family has been reported (last curated june 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large family has been reported (last curated june 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1845. en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1846. en:one pakistani family has been reported (last curated october 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1847. en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1848. en:one patient died at age 7 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient died at age 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1849. en:one patient has been reported (as of august 2010) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of august 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1850. en:one patient has been reported (last curated november 2010) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated november 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1851. en:one patient has been reported (last curated november 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1852. en:one patient reported with col3a1 mutation (120180.0020) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1853. en:one patient reported with slitrk1 mutation (as of january 2010) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1854. en:one patient with normal psychomotor development has been reported (last curated december 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1855. en:one-third of cases are familial --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one-third of cases are familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1856. en:onset 14 months to 4 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 14 months to 4 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1857. en:onset 20-55 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 20-55 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1858. en:onset 7 to 15 months of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 7 to 15 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1859. en:onset ages 2 to 14 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ages 2 to 14 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1860. en:onset at 2 to 15 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 2 to 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1861. en:onset at age 10 to 14 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at age 10 to 14 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1862. en:onset at birth or early childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at birth or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1863. en:onset at or soon after birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at or soon after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1864. en:onset between 5 and 20 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 5 and 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1865. en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1866. en:onset in childhood (ages 1.5 to 7 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1867. en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1868. en:onset in early childhood (age 3) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (age 3) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1869. en:onset in early childhood (infancy to 5 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (infancy to 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1870. en:onset in early childhood to puberty --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood to puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1871. en:onset in first and second decades --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first and second decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1872. en:onset in first days of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first days of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1873. en:onset in first decade (as early as infancy in some) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade (as early as infancy in some) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1874. en:onset in first decade (birth to 6 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade (birth to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1875. en:onset in first or second decade (range 4 to 13 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1876. en:onset in infancy after weaning from being breast-fed --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy after weaning from being breast-fed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1877. en:onset in infancy or at birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1878. en:onset in late childhood/adolescence (approximately 15 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1879. en:onset in late twenties to thirties --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late twenties to thirties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1880. en:onset in newborns or infants --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in newborns or infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1881. en:onset in teens has been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teens has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1882. en:onset in teens to 20's --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teens to 20's | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1883. en:onset in the fourth to sixth decades (mean 40 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1884. en:onset of abnormal eye movements in early childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of abnormal eye movements in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1885. en:onset of ataxia between 1 and 3 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of ataxia between 1 and 3 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1886. en:onset of choreoathetosis in childhood or young adult (6-23 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1887. en:onset of disease between 25 and 40 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease between 25 and 40 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1888. en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1889. en:onset of dysmorphic features and developmental delay in infancy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1890. en:onset of dystonia at 12 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of dystonia at 12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1891. en:onset of dystonia is in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of dystonia is in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1892. en:onset of febrile seizures typically between 6 months and 6 years of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1893. en:onset of hand involvement at 14 to 60 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hand involvement at 14 to 60 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1894. en:onset of hearing loss in second decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1895. en:onset of insulin resistance may occur in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of insulin resistance may occur in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1896. en:onset of lymphedema around puberty --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of lymphedema around puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1897. en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1898. en:onset of renal dysfunction in early childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of renal dysfunction in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1899. en:onset of skin lesions at birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of skin lesions at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1900. en:onset of symptoms after age 5 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms after age 5 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1901. en:onset of symptoms in first or second decade of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in first or second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1902. en:onset of symptoms less than one year --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms less than one year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1903. en:onset of symptoms often associated with nonspecific febrile illness --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1904. en:onset of thrombosis by age 2 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of thrombosis by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1905. en:onset of visual loss in the first decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of visual loss in the first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1906. en:onset prenatally or at birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset prenatally or at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1907. en:onset ranges from birth to age 4 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from birth to age 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1908. en:onset soon after birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset soon after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1909. en:onset usually at birth --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1910. en:onset usually at birth, but may occur later --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually at birth, but may occur later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1911. en:onset usually in the neck --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in the neck | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1912. en:onset within first 2 years of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1913. en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1914. en:overall prevalence is between 0.5 and 14 per 100,000 people per year --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1915. en:pain tends to occur later in the day --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pain tends to occur later in the day | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1916. en:patients are often of mediterranean origin --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are often of mediterranean origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1917. en:patients are severely disabled as adults --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are severely disabled as adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1918. en:patients can be divided into 2 groups based on whether typical hand anomalies are present --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1919. en:patients have no abnormalities of hair, teeth, or bone --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1920. en:patients have severe anemia requiring regular transfusions for normal activity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1921. en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1922. en:patients may require implantable cardioverter defibrillators --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may require implantable cardioverter defibrillators | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1923. en:patients need support with walking or are wheelchair-bound --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients need support with walking or are wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1924. en:patients of brazilian origin have a pure cerebellar atrophy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1925. en:patients often become wheelchair-bound --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1926. en:patients require achilles tendon lengthening in first or second decade of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1927. en:patients with contiguous gene deletion of 8q24 have more severe features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1928. en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1929. en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1930. en:patients with later onset have better prognosis --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with later onset have better prognosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1931. en:patients with meb have less severe features and longer survival --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with meb have less severe features and longer survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1932. en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1933. en:patients with the autosomal recessive disorder have a more severe phenotype --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1934. en:peak age of onset in second decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:peak age of onset in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1935. en:pedigrees compatible with autosomal dominant inheritance have been reported --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1936. en:phenotype may be influenced by maternal alcohol consumption during pregnancy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1937. en:phenotypic overlap with currarino syndrome (176450) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1938. en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1939. en:possibly allelic to cohen syndrome (216550) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possibly allelic to cohen syndrome (216550) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1940. en:precipitated by sleep deprivation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by sleep deprivation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1941. en:premature aging syndrome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:premature aging syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1942. en:prenatal or perinatal death --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal or perinatal death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1943. en:presentation at 3-6 weeks of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation at 3-6 weeks of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1944. en:presents at a later age than sporadic wilms tumor --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents at a later age than sporadic wilms tumor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1945. en:prevalence 1 in 1,250 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence 1 in 1,250 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1946. en:prevalence 1/10,000-1/15,000 female births --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1947. en:prevalence estimated at 1 in 50,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence estimated at 1 in 50,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1948. en:prevalence in sardinia is 1 in 14,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1949. en:prevalence in taiwan is 1 in 132,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1950. en:prevalence of 1 in 150,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 150,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1951. en:prevalence of 1 in 28,000 caucasians --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 28,000 caucasians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1952. en:prevalence of 1 in 40,000 to 1 in 80,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1953. en:prevalence of sleepwalking up to 26% in childhood --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1954. en:prevalence ranges from 1 in 12,000 to 1 in 50,000 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1955. en:prevalent in quebec --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in quebec | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1956. en:prevalent in sweden --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in sweden | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1957. en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1958. en:rapidly progressive course --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1959. en:reduced exercise tolerance --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced exercise tolerance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1960. en:reduced penetrance (about 60%) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance (about 60%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1961. en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1962. en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1963. en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1964. en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1965. en:relatively mild cutis laxa, associated with severe vascular abnormalities --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1966. en:relatives with multiple small congenital pigmented nevi --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatives with multiple small congenital pigmented nevi | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1967. en:reported in a large hutterite family --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in a large hutterite family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1968. en:resource identifier:uri:pt:study:nom --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:resource identifier:uri:pt:study:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1969. en:responsive to high-dose biotin or biotin/thiamine treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1970. en:secondary features include arterial hypertension and renal involvement --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:secondary features include arterial hypertension and renal involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1971. en:see 255160 for an autosomal recessive form --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 255160 for an autosomal recessive form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1972. en:see 609888 for a discussion on leprosy susceptibility --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1973. en:see also autosomal form, 146450, and another x-linked form, 300633 --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1974. en:see also benign neonatal epilepsy (ebn1, 121200) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1975. en:see also cmtx1 (302800) and cmt3x (302802) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1976. en:see also ecyt2 (263400) and ecyt3 (609820) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1977. en:see also febrile seizures (feb1, 121210) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also febrile seizures (feb1, 121210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1978. en:see also infantile (600649) and late-onset (255110) cpt ii deficiency --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1979. en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1980. en:see also recessive deb (226600), an allelic disorder with a more severe phenotype --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1981. en:see the more common methemoglobinemia types i and ii (250800) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1982. en:seizures are usually refractory at first --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are usually refractory at first | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1983. en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1984. en:seizures may improve with age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1985. en:seizures may occur upon awakening or at any time during the day --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may occur upon awakening or at any time during the day | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1986. en:seizures, recurrent, refractory --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures, recurrent, refractory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1987. en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1988. en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1989. en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1990. en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1991. en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1992. en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1993. en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1994. en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1995. en:severe ambulatory restriction --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe ambulatory restriction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1996. en:severe infantile cases usually die by 6 months --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe infantile cases usually die by 6 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1997. en:severe infections in untreated patients with neutropenia --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe infections in untreated patients with neutropenia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1998. en:severity of clinical phenotype varies both within and between kindreds --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  1999. en:sex ratio of 4-4.5 males to 1 female --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2000. en:short umbilical cord --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:short umbilical cord | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2001. en:signs and symptoms depend on tumor location and activity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:signs and symptoms depend on tumor location and activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2002. en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2003. en:six patients from 1 saudi arabian family have been reported (last curated december 2011) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2004. en:skeletal abnormalities are variable --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skeletal abnormalities are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2005. en:skin abnormalities tend to decrease with age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin abnormalities tend to decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2006. en:skin lesions exacerbated by heat, exercise (sweating), and sunlight --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2007. en:skin manifestation less frequently observed in cold climates --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin manifestation less frequently observed in cold climates | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2008. en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2009. en:slight male predominance (3:2) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slight male predominance (3:2) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2010. en:slowly or nonprogressive --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slowly or nonprogressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2011. en:some affected individuals have normal subsequent development --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some affected individuals have normal subsequent development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2012. en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2013. en:some patients become wheelchair-bound --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2014. en:some patients can be treated with large doses of vitamin d and calcium --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2015. en:some patients carry heterozygous mutations --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients carry heterozygous mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2016. en:some patients have a milder nonprogressive phenotype --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a milder nonprogressive phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2017. en:some patients have milder persistent blistering --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have milder persistent blistering | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2018. en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2019. en:some patients have only ocular involvement or only oral involvement --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have only ocular involvement or only oral involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2020. en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2021. en:some patients have subclinical exocrine pancreatic deficiency --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2022. en:some patients may become wheelchair-bound --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2023. en:some patients may have normal brain imaging --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have normal brain imaging | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2024. en:some patients never achieve sitting --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients never achieve sitting | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2025. en:some patients show no bleeding abnormalities --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show no bleeding abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2026. en:spontaneously resolves by 5 to 6 months of age --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2027. en:subset of patients have french-canadian leigh syndrome (220111) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2028. en:subtle facial phenotype compared to other types of hpe --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtle facial phenotype compared to other types of hpe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2029. en:subtle personality and behavioral changes are presenting signs --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtle personality and behavioral changes are presenting signs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2030. en:subtype 3c (231005) comprises cardiovascular calcifications --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2031. en:survival to 20s-60s in iib --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival to 20s-60s in iib | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2032. en:swelling starts to fade by age 30 years and gradually becomes unremarkable --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2033. en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2034. en:symptomatic if > 200 repeats --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptomatic if > 200 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2035. en:symptoms worsen with fatigue and exercise --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms worsen with fatigue and exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2036. en:systemic amyloid deposition may occur --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:systemic amyloid deposition may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2037. en:tendency to lighter pigmentation than unaffected relatives --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2038. en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2039. en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2040. en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2041. en:therapy-induced dyskinesias --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:therapy-induced dyskinesias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2042. en:thiamine supplementation may be beneficial --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thiamine supplementation may be beneficial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2043. en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2044. en:those with intermediate repeat expansions show reduced penetrance --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2045. en:three forms of cjd: acquired (including variant), sporadic, and inherited --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2046. en:three patients have been described (last curated january 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been described (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2047. en:three types of cystinosis are recognized --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three types of cystinosis are recognized | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2048. en:three unrelated families have been reported (as of june 2011) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (as of june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2049. en:three unrelated families have been reported (last curated october 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2050. en:three unrelated patients have been reported (last curated april 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2051. en:three unrelated patients have been reported (last curated july 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2052. en:thyroid gland carcinoma --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thyroid gland carcinoma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2053. en:tumor suppressor gene --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tumor suppressor gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2054. en:two brothers have been reported (last curated august 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two brothers have been reported (last curated august 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2055. en:two consanguineous turkish families have been reported (as of august 2011) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2056. en:two families have been reported (as of september 2011) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2057. en:two families have been reported (last curated december 2010) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated december 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2058. en:two families reported with 2 sibs each (last curated october 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families reported with 2 sibs each (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2059. en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2060. en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2061. en:two unrelated families have been reported (last curated april 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2062. en:two unrelated families have been reported (last curated february 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2063. en:two unrelated families have been reported (last curated july 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2064. en:two unrelated families have been reported (last curated may 2013) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2065. en:two unrelated patients have been reported (last curated june 2012) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2066. en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2067. en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2068. en:type 2b is characterized by increased affinity for platelet glycoprotein 1b --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2069. en:type a characterized by progressive myoclonic epilepsy --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2070. en:type b characterized by dementia, motor disturbances, and facial dyskinesia --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2071. en:urine turns dark on standing and alkalinization --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:urine turns dark on standing and alkalinization | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2072. en:ush3 cases account for 40% of all usher patients in finland --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2073. en:usually a manifestation of the carney complex (cnc1, 1609890) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2074. en:usually fatal by age 5 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually fatal by age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2075. en:usually occurs in young adults --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually occurs in young adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2076. en:variable age at onset (range childhood to late adult) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range childhood to late adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2077. en:variable age at onset, from birth to ninth decade --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, from birth to ninth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2078. en:variable age of onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2079. en:variable age of onset (6 to 35 years) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (6 to 35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2080. en:variable extraneurologic features --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable extraneurologic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2081. en:variable features present --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable features present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2082. en:variable phenotype, particularly with regard to cortical malformations --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2083. en:variable response to acetazolamide and carbamazepine --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable response to acetazolamide and carbamazepine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2084. en:variable response to levodopa treatment --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable response to levodopa treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2085. en:variable severity and progression --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity and progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2086. en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2087. en:variable severity, correlates with age at onset --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, correlates with age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2088. en:venous malformations previously referred to as angiomas or hemangiomas --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2089. en:vhl type 2c - pheochromocytoma only --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vhl type 2c - pheochromocytoma only | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2090. en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2091. en:wheelchair use at 20-30 years --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wheelchair use at 20-30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2092. en:wide phenotypic variability and severity --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide phenotypic variability and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2093. en:women affected more than men (3:2) --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:women affected more than men (3:2) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2094. en:z allele most common, only in caucasians --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:z allele most common, only in caucasians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2095. en:zinc deficiency in breastfed offspring resolves after weaning --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2096. rétinite pigmentaire sénile --- r_associated #0: 28 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire sénile | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=28
  2097. en:'variant' form of x-linked cgd retains residual cytochrome b(-245) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2098. en:1 in 19,000 in japan --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:1 in 19,000 in japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2099. en:13% of cases secondary to familial translocation (often maternally derived) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2100. en:14% of patients survive with polyhydramnios --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:14% of patients survive with polyhydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2101. en:15 patients from 5 kindreds reported (as of february 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2102. en:15% cases are familial --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:15% cases are familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2103. en:2% due to paternal uniparental disomy of 15q11.2-q13 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2104. en:40% patients have associated abnormalities --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:40% patients have associated abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2105. en:a mutation in the cxorf5 gene has been reported in 1 affected family --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2106. en:about 50% of mutation carriers are asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 50% of mutation carriers are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2107. en:about 50% of patients become wheelchair-bound at an average age of 37 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2108. en:about half of individuals are asymptomatic and identified by newborn screening programs --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2109. en:accounts for 30-50% of lymphomas in children --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for 30-50% of lymphomas in children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2110. en:adult form is asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult form is asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2111. en:adult onset --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2112. en:adult onset (20 to 40 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (20 to 40 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2113. en:adult onset (25-45 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (25-45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2114. en:adult onset (mean 27 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean 27 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2115. en:adult onset may occur --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2116. en:adult onset rarely reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset rarely reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2117. en:adults may lose ability to walk --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adults may lose ability to walk | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2118. en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2119. en:affected males are somatic mosaic for mutations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males are somatic mosaic for mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2120. en:age at diagnosis 26 +/- 14 years for recessive disease --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2121. en:age at diagnosis 28 +/- 18 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 28 +/- 18 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2122. en:age at onset 14 to 44 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset 14 to 44 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2123. en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2124. en:age at onset ranges from 50 to 70 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset ranges from 50 to 70 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2125. en:age of onset 28 to 70 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 28 to 70 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2126. en:age of onset between 20 to 30 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset between 20 to 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2127. en:age-dependent penetrance --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age-dependent penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2128. en:age:time:point in time:^patient:quantitative --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2129. en:all features are unilateral --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all features are unilateral | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2130. en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2131. en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2132. en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2133. en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2134. en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2135. en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2136. en:allelic disorder to opitz-kaveggia syndrome (305450) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2137. en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2138. en:allelic disorder to the ivic syndrome (147750) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2139. en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2140. en:allelic to aicardi-goutieres syndrome (225750) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2141. en:allelic to cowden disease (158350), which has a later age at onset --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2142. en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2143. en:allelic to marshall syndrome (154780) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to marshall syndrome (154780) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2144. en:allelic to pendred syndrome, deafness with goiter (274600) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2145. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2146. en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2147. en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2148. en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2149. en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2150. en:alpha-l-iduronidase activity is <1% for all forms of mps1 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2151. en:anemia does not respond to alpha-interferon treatment --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia does not respond to alpha-interferon treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2152. en:anemia is transfusion-dependent --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia is transfusion-dependent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2153. en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2154. en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2155. en:approximately 50% of patients have situs inversus --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 50% of patients have situs inversus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2156. en:approximately 60% of cases are due to somatic mutations and are unilateral --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2157. en:arrhythmias detected prenatally (in some patients) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:arrhythmias detected prenatally (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2158. en:associated with idiopathic generalized epilepsy (ige, 600669) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2159. en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2160. en:associated with untreated phenylketonuria (261600) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with untreated phenylketonuria (261600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2161. en:association of cardiac events with exercise --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:association of cardiac events with exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2162. en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2163. en:attacks tend to decrease with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks tend to decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2164. en:autosomal recessive form (277720) has also been described --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive form (277720) has also been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2165. en:autosomal recessive inheritance has been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2166. en:autosomal recessive inheritance has been reported (see 601253.0010) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2167. en:autosomal recessive inheritance has been reported in 1 case --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2168. en:average age at onset 18 years (range 15 to 25 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2169. en:average age at onset is 24 years (range 4 to 58 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2170. en:average age of onset 13 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age of onset 13 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2171. en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2172. en:based on 1 family (last curated september 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 family (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2173. en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2174. en:based on 1 reported patient (last curated november 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 reported patient (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2175. en:based on one report of brother and sister --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one report of brother and sister | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2176. en:based on report of 1 family (last curated january 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 family (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2177. en:based on report of 1 family (last curated october 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 family (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2178. en:based on report of 2 families (last curated january 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 families (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2179. en:begins in hands or feet, later generalized --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:begins in hands or feet, later generalized | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2180. en:between 2 and 7% of children will develop afebrile seizure disorders later in life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2181. en:blindness episodes are not associated with fhm episodes --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blindness episodes are not associated with fhm episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2182. en:blood glucose monitor with integrated lancing/blood sample --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2183. en:both homozygous and heterozygous ednrb mutations have been found --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2184. en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2185. en:carrier females may show mild mental retardation or learning disabilities --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2186. en:cataracts present at birth or develop in infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cataracts present at birth or develop in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2187. en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2188. en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2189. en:cheerful disposition --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cheerful disposition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2190. en:childhood or adolescent onset, protracted, with myopathy and neuropathy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2191. en:children rarely develop the disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:children rarely develop the disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2192. en:chromosome rearrangements gave been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chromosome rearrangements gave been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2193. en:chronic course with exacerbations and remissions --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chronic course with exacerbations and remissions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2194. en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2195. en:clinical improvement after 2 to 3 weeks of supportive care --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2196. en:clinically mimics congenital torch infections (see 251290) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2197. en:considered a myeloproliferative disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered a myeloproliferative disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2198. en:contiguous gene deletion syndrome --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene deletion syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2199. en:coronary artery disease or myocardial infarction in fifth or sixth decade of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2200. en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2201. en:crisis precipitated by high altitude exposure --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:crisis precipitated by high altitude exposure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2202. en:d-hus is usually familial --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:d-hus is usually familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2203. en:death frequent in severe infantile form --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death frequent in severe infantile form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2204. en:death in early childhood may occur --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in early childhood may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2205. en:death in infancy, usually from sepsis, dehydration, or acidosis --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2206. en:death in neonatal period --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2207. en:death in untreated children --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in untreated children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2208. en:death may occur in late childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death may occur in late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2209. en:death occurs 10 to 20 years after onset --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death occurs 10 to 20 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2210. en:death occurs in second or third decade --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death occurs in second or third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2211. en:death often in first months of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2212. en:death usually occurs by age 2 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2213. en:deletions in naip gene (600355) found in 18% of smaii patients --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2214. en:described in families from western japan --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in families from western japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2215. en:described in single afrikaner family --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in single afrikaner family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2216. en:diagnosis in early childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2217. en:disease is life-threatening if untreated --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease is life-threatening if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2218. en:dopa-responsive rigidity --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dopa-responsive rigidity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2219. en:dramatic improvement with proper treatment --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dramatic improvement with proper treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2220. en:dramatic late catch-up growth occurs in adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2221. en:duane anomaly is not always present --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:duane anomaly is not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2222. en:earlier onset is associated with a more severe disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset is associated with a more severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2223. en:earlier onset may occur --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2224. en:early death (mean age 13 months) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death (mean age 13 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2225. en:early death may occur due to infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death may occur due to infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2226. en:early death without bone marrow transplantation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death without bone marrow transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2227. en:early onset (average 1 year) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset (average 1 year) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2228. en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2229. en:eight unrelated patients have been reported (as of september 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2230. en:electrolyte imbalances can mimic renal bartter syndrome (601678) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2231. en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2232. en:epiphyseal stippling is gone by 8 months of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2233. en:episodes brought on by fasting or infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes brought on by fasting or infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2234. en:episodes last 2 days to 1 week --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes last 2 days to 1 week | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2235. en:episodes typically last 2 to 5 minutes and occur daily or several times per month --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2236. en:estimated frequency 1.6 cases/10,000 live births --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2237. en:exacerbation of symptoms during or after pregnancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbation of symptoms during or after pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2238. en:exacerbations during infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbations during infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2239. en:excessive postsurgical blood loss --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:excessive postsurgical blood loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2240. en:extremely variable phenotype --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:extremely variable phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2241. en:facial appearance becomes more apparent with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial appearance becomes more apparent with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2242. en:facial dysmorphism is uncommon --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial dysmorphism is uncommon | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2243. en:familial (10%) and isolated cases --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial (10%) and isolated cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2244. en:favorable response to intermittent, low-dose steroid therapy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2245. en:favorable response to l-dopa --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to l-dopa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2246. en:features are variable --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2247. en:female carriers may be affected --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may be affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2248. en:female carriers may show intermittent hematuria --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may show intermittent hematuria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2249. en:female to male ratio, 1:1 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female to male ratio, 1:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2250. en:females are most often affected, but rare male cases have been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females are most often affected, but rare male cases have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2251. en:fetal death usually occurs --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fetal death usually occurs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2252. en:few patients with mild to moderate mental retardation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:few patients with mild to moderate mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2253. en:fifty percent of cases secondary to new mutations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fifty percent of cases secondary to new mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2254. en:findings in muscle biopsy may be variable --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:findings in muscle biopsy may be variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2255. en:foot deformities are present in infancy or childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:foot deformities are present in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2256. en:foot dragging may appear in childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:foot dragging may appear in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2257. en:forty percent of patients die in the first year --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:forty percent of patients die in the first year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2258. en:four patients from 3 families have been reported (last curated february 2015) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2259. en:four patients have been reported from pakistan (as of march 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2260. en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2261. en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2262. en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2263. en:fractures often heal without deformity --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fractures often heal without deformity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2264. en:frequency of infections decreases after 3 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency of infections decreases after 3 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2265. en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2266. en:generally considered to be a benign disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generally considered to be a benign disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2267. en:genetic heterogeneity (see cftd1, 255310) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2268. en:genetic heterogeneity (see cmt1b 118200) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2269. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2270. en:genetic heterogeneity (see hcfp1, 601471) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2271. en:genetic heterogeneity (see npc2, 607625) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2272. en:genetic heterogeneity (see psnp2 609454) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2273. en:genetic heterogeneity (see rmd, 606072) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2274. en:genetic heterogeneity (see sca1, 164000) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2275. en:genetic heterogeneity (sli2 606712, sli3 607134) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2276. en:genetic heterogeneity, see aprm2 (610422) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2277. en:genetic heterogeneity, see fhm1 141500 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2278. en:germline or somatic mutations may cause the disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:germline or somatic mutations may cause the disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2279. en:gradual progression of hearing loss --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gradual progression of hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2280. en:gradual spontaneous improvement in the first year of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gradual spontaneous improvement in the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2281. en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2282. en:hairy elbows become apparent in infancy and regress during adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2283. en:hands clenched at birth but loosen in infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hands clenched at birth but loosen in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2284. en:hearing loss is usually severe by age 20 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss is usually severe by age 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2285. en:hearing loss occurs in late childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss occurs in late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2286. en:hearing loss occurs later if at all --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss occurs later if at all | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2287. en:hearing loss progresses to profound deafness --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss progresses to profound deafness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2288. en:hemolysis may be exercise-induced --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hemolysis may be exercise-induced | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2289. en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2290. en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2291. en:heterozygotes may exhibit syndromic manifestations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2292. en:heterozygous carriers have decreased blood pressure compared to the general population --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2293. en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2294. en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2295. en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2296. en:high frequency seizures --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2297. en:high incidence in iraqis and sephardic jewish individuals --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2298. en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2299. en:high incidence of e. coli sepsis in untreated neonates --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2300. en:high prevalence in holguin province of cuba --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high prevalence in holguin province of cuba | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2301. en:highly variable age at onset (range 9 to 69 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2302. en:highly variable clinical phenotype --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable clinical phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2303. en:highly variable frequency and severity of attacks --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable frequency and severity of attacks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2304. en:highly variable intrafamilial severity --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable intrafamilial severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2305. en:highly variable pathologic phenotype --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable pathologic phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2306. en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2307. en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperkeratosis often present at birth but may appear later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2308. en:incidence - 1 in 25,000-100,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence - 1 in 25,000-100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2309. en:incidence 1 in 30,000 male births --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 30,000 male births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2310. en:incidence 1/1,200-1/15,000 live births --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1/1,200-1/15,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2311. en:incidence of 1 in 480 among old order amish --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 480 among old order amish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2312. en:incidence of mh in anesthetized children is 1 in 15,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2313. en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2314. en:incomplete, but high, penetrance --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete, but high, penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2315. en:increased frequency in ashkenazi jewish population and in finland --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2316. en:increased male-to-female ratio (3-4 to 1) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2317. en:infant death may occur secondary to sepsis --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infant death may occur secondary to sepsis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2318. en:infantile onset with hepatic involvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile onset with hepatic involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2319. en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2320. en:intrafamilial variability --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2321. en:intrafamilial variability in degree of nail involvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in degree of nail involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2322. en:late infantile onset 6-24 months --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late infantile onset 6-24 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2323. en:later onset can also occur (up to age 17 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset can also occur (up to age 17 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2324. en:leg pain during childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:leg pain during childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2325. en:lesions increase in size and number with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions increase in size and number with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2326. en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2327. en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2328. en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2329. en:limb malformations are variable --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limb malformations are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2330. en:loss of independent ambulation (in 2 of 3 patients) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2331. en:major fluid shifts may occur in severe cases --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:major fluid shifts may occur in severe cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2332. en:majority of cases in manitoba indians, northeastern manitoba, canada --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2333. en:majority of individuals are healthy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of individuals are healthy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2334. en:male to female ratio 7:1 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male to female ratio 7:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2335. en:male-limited trait --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male-limited trait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2336. en:males carry mutations in the somatic mosaic state --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males carry mutations in the somatic mosaic state | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2337. en:males may be more affected than females --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males may be more affected than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2338. en:males more affected than females (2 to 2.5:1) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males more affected than females (2 to 2.5:1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2339. en:manifestations of cushing syndrome may be mild --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:manifestations of cushing syndrome may be mild | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2340. en:many cases are sporadic, but somatic and germline mosaicism has been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2341. en:many cases due to de novo mutation or chromosome aberration --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2342. en:many patients become wheelchair-bound later in life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients become wheelchair-bound later in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2343. en:many patients die by 1-3 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients die by 1-3 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2344. en:many patients lose independent mobility after 25 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients lose independent mobility after 25 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2345. en:many patients require cardiac pacemakers --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many patients require cardiac pacemakers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2346. en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2347. en:marked clinical heterogeneity --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked clinical heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2348. en:marked intrafamilial and interfamilial variability --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked intrafamilial and interfamilial variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2349. en:marked phenotypic variability, even within an individual --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked phenotypic variability, even within an individual | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2350. en:maternal breast milk is protective --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal breast milk is protective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2351. en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2352. en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2353. en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2354. en:may manifest as 'ataxic' phenotype without parkinsonian features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2355. en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2356. en:may regress in adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may regress in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2357. en:mean age at diagnosis 16 years (range 6 to 22) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2358. en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2359. en:mean age at diagnosis is 38 years(range 11-63 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2360. en:mean age at onset 10.6 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 10.6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2361. en:mean age at onset 15.2 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 15.2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2362. en:mean age at onset 27 years (range 9 to 42) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2363. en:mean age at onset 45 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 45 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2364. en:mean age at onset is 10.4 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset is 10.4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2365. en:mesomelia becomes more evident with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mesomelia becomes more evident with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2366. en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2367. en:mild manifestations in carrier females (cleft lip, cleft tongue) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2368. en:mild symptoms may occur in teenage years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild symptoms may occur in teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2369. en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2370. en:more common in women (90%) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in women (90%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2371. en:mortality, premature --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mortality, premature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2372. en:most common form of porphyria --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of porphyria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2373. en:most common mutation is leu276ile (606596.0004) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common mutation is leu276ile (606596.0004) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2374. en:most frequently affected joints - hands (98%) and feet (88%) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2375. en:most individuals are asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most individuals are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2376. en:most individuals are wheelchair-bound or bedridden by adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2377. en:most patients become seizure-free by age 3 or 4 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2378. en:most patients become wheelchair-bound in later childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients become wheelchair-bound in later childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2379. en:most patients die of hepatic failure by 9 months of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die of hepatic failure by 9 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2380. en:most patients do not learn to sit or walk --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients do not learn to sit or walk | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2381. en:most patients have adult onset of symptoms --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have adult onset of symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2382. en:motor symptoms develop later (about 5 years into illness) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2383. en:muscle weakness increases with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:muscle weakness increases with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2384. en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2385. en:nail changes may be intermittent in some patients --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nail changes may be intermittent in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2386. en:natural aversion to carbohydrates and favoring of protein --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2387. en:nearly 100% penetrance by 60 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nearly 100% penetrance by 60 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2388. en:neonatal death secondary to pulmonary insufficiency --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2389. en:neonatal onset of nephrotic syndrome --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal onset of nephrotic syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2390. en:neonatal or infant death --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal or infant death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2391. en:neurologic symptoms are not always present or may appear late --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic symptoms are not always present or may appear late | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2392. en:night blindness from early childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:night blindness from early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2393. en:no mutations reported in la reunion island patients (last curated august 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2394. en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2395. en:non-progressive and more severe progressive forms --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:non-progressive and more severe progressive forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2396. en:non-progressive or very slowly progressive --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:non-progressive or very slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2397. en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2398. en:nonsyndromic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonsyndromic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2399. en:normal alleles contain up to 44 repeats --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles contain up to 44 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2400. en:normal development until onset of seizures --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal development until onset of seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2401. en:normal fertility --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal fertility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2402. en:nphp shows autosomal recessive inheritance --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nphp shows autosomal recessive inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2403. en:nystagmus is often the presenting sign --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nystagmus is often the presenting sign | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2404. en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2405. en:often diagnosed between ages 3-4 months --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often diagnosed between ages 3-4 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2406. en:one child has been reported (as of october 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one child has been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2407. en:one chinese family has been reported (last curated july 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one chinese family has been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2408. en:one consanguineous pakistani family has been described (last curated march 2015) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2409. en:one consanguineous senegalese family has been reported (last curated december 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2410. en:one family had normal cognitive and neurologic development --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family had normal cognitive and neurologic development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2411. en:one family reported (last curated july 2008) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated july 2008) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2412. en:one family with 3 affected girls has been reported (as of october 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2413. en:one family with 3 affected males has been reported (as of october 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2414. en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2415. en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2416. en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2417. en:one large 3-generation irish family has been reported (last curated october 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2418. en:one large swedish family has been reported (as of april 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large swedish family has been reported (as of april 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2419. en:one male and 3 unrelated females have been reported (last curated october 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one male and 3 unrelated females have been reported (last curated october 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2420. en:one pakistani family has been reported (last curated september 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2421. en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2422. en:one patient has been reported (last curated may 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2423. en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2424. en:one patient studied at molecular level (as of july 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient studied at molecular level (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2425. en:one patient with additional features of fanconi anemia has been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2426. en:one spanish family has been reported (last curated august 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one spanish family has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2427. en:one swiss family with 19 affected individuals has been described (last curated february 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2428. en:one third of patients represent new mutations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one third of patients represent new mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2429. en:one-third of cases are sporadic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one-third of cases are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2430. en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2431. en:only female patients reported (last curated october 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only female patients reported (last curated october 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2432. en:only some patients showed neurologic involvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only some patients showed neurologic involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2433. en:onset 6 to 12 months --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 6 to 12 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2434. en:onset after puberty --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2435. en:onset after third decade --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset after third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2436. en:onset age 20 to 51 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset age 20 to 51 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2437. en:onset around age 2 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset around age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2438. en:onset at 2 to 4 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 2 to 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2439. en:onset before 18 months of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before 18 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2440. en:onset before age 20 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 20 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2441. en:onset before age 40 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2442. en:onset between 6 and 12 months of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 6 and 12 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2443. en:onset between 6 and 14 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 6 and 14 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2444. en:onset between 7 and 27 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 7 and 27 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2445. en:onset between ages 1 to 3 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between ages 1 to 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2446. en:onset in adolescence or young adulthood has been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence or young adulthood has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2447. en:onset in childhood (range 1 to 12 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range 1 to 12 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2448. en:onset in childhood or early adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or early adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2449. en:onset in early infancy (2 to 3 months of age) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early infancy (2 to 3 months of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2450. en:onset in first decade (e.g. 180380.0028) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade (e.g. 180380.0028) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2451. en:onset in first decade after normal early development --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade after normal early development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2452. en:onset in first few years of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first few years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2453. en:onset in fourth to sixth decades --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fourth to sixth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2454. en:onset in infancy (1-2 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (1-2 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2455. en:onset in infancy or early childhood (birth to 6 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2456. en:onset in infancy or first years of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2457. en:onset in late childhood or adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late childhood or adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2458. en:onset in late infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2459. en:onset in late teens to early forties --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late teens to early forties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2460. en:onset in neonatal period or infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in neonatal period or infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2461. en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2462. en:onset in teens to late twenties (range 14 to 44 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2463. en:onset in third decade --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2464. en:onset in third or fourth decades --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in third or fourth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2465. en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2466. en:onset of clinical features around puberty --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of clinical features around puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2467. en:onset of contractures in utero --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of contractures in utero | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2468. en:onset of diabetes in neonatal period/ early infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2469. en:onset of disease in late childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease in late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2470. en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2471. en:onset of essential tremor between 16 and 44 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of essential tremor between 16 and 44 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2472. en:onset of fracture usually when child begins to walk --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of fracture usually when child begins to walk | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2473. en:onset of hearing loss in late childhood or adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in late childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2474. en:onset of hearing loss prior to or during adolescence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss prior to or during adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2475. en:onset of hearing loss ranges from childhood to young adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2476. en:onset of kyphosis in childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of kyphosis in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2477. en:onset of neurologic disease in early adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of neurologic disease in early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2478. en:onset of normal pressure hydrocephalus after age 65 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2479. en:onset of symptoms in childhood with stiff, painful joints --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2480. en:onset of thrombocytopenia in early childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of thrombocytopenia in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2481. en:onset usually after age 40 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually after age 40 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2482. en:onset usually before age 40 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually before age 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2483. en:onset usually between 30 and 50 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually between 30 and 50 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2484. en:onset usually in childhood (infancy to teens) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood (infancy to teens) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2485. en:onset usually in early childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2486. en:onset usually in first month of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first month of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2487. en:onset usually in infancy although later onset may occur --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy although later onset may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2488. en:onset usually in infancy or early childhood (9 months to 6 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2489. en:onset usually in the first decade (range 0.8 to 5 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2490. en:opportunistic infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:opportunistic infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2491. en:oral supplementation with ubiquinone does not result in major clinical improvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2492. en:ossification evident 2-8 months following swelling --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ossification evident 2-8 months following swelling | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2493. en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2494. en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2495. en:overlapping features of digeorge syndrome --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlapping features of digeorge syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2496. en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2497. en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2498. en:patients are often asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are often asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2499. en:patients with longer disease duration show motor neuron involvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with longer disease duration show motor neuron involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2500. en:patients with meb may acquire ability to walk and a few words --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with meb may acquire ability to walk and a few words | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2501. en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2502. en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2503. en:patients with t2 deficiency and urinary abnormalities may be asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2504. en:persistent bleeding after injury or surgery --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:persistent bleeding after injury or surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2505. en:phenotypic overlap with fhm1 (141500) and sca6 (183086) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2506. en:phenotypic overlap with revesz syndrome (268130) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2507. en:phenotypically indistinguishable from hemophilia a (306700) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2508. en:phenotypically mild form of joubert syndrome --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypically mild form of joubert syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2509. en:poor response to acetylcholinesterase inhibitors --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to acetylcholinesterase inhibitors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2510. en:poor response to the c5 inhibitor eculizumab --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to the c5 inhibitor eculizumab | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2511. en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2512. en:precipitated by febrile illness and fasting --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by febrile illness and fasting | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2513. en:prenatal onset --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2514. en:presentation in childhood includes waddling gait and knee pain/stiffness --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2515. en:presentation in early childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2516. en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2517. en:prevalence in poland is 1 in 129,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in poland is 1 in 129,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2518. en:prevalence is estimated to be 1 in 150,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2519. en:prevalence of 1 in 3,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 3,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2520. en:prevalence of 1 in 40,000 among caucasians --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2521. en:prevalence of 7 in 100,000 live births --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 7 in 100,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2522. en:prevalent in arabic, turkish, armenian, and sephardic jewish populations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2523. en:prevalent in ashkenazi jews --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in ashkenazi jews | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2524. en:progresses through puberty, then stabilizes --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progresses through puberty, then stabilizes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2525. en:progressive deafness --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive deafness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2526. en:protracted disease course --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:protracted disease course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2527. en:pyogenic arthritis, pyoderma gangrenosum and acne --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2528. en:rapid disease progression --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapid disease progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2529. en:rapid disease progression from ages 40 to 50 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapid disease progression from ages 40 to 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2530. en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2531. en:ratio female to male, 19:10 in index family --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ratio female to male, 19:10 in index family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2532. en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2533. en:reduced life expectancy, death by 10 years of age in 70% of patients --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2534. en:reduced penetrance (75%) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance (75%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2535. en:relapsing-remitting course --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relapsing-remitting course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2536. en:relatively benign course --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively benign course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2537. en:relatively mild course --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively mild course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2538. en:repeat is unstable if > 52 repeats --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:repeat is unstable if > 52 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2539. en:reported in individuals of sephardic jewish ancestry --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in individuals of sephardic jewish ancestry | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2540. en:resembles intrauterine torch infection but without intrauterine infection --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2541. en:response to benadryl (diphenhydramine) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:response to benadryl (diphenhydramine) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2542. en:response to zinc supplementation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:response to zinc supplementation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2543. en:responsive to thiazide diuretics --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:responsive to thiazide diuretics | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2544. en:responsive to treatment --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:responsive to treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2545. en:reticulate hyperpigmentation onset birth - 2 years --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2546. en:retinal hemorrhages usually resolve without sequelae --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2547. en:sando (607459) is a phenotypic variant of autosomal recessive peo --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2548. en:see also autosomal recessive peob (258450) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive peob (258450) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2549. en:see also benign familial infantile convulsions (bfic1, 601764) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2550. en:see also da2b (601680), which is an allelic disorder --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also da2b (601680), which is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2551. en:see also distal hmn2a (158590) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also distal hmn2a (158590) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2552. en:see also facial hemihypertrophy (133900) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also facial hemihypertrophy (133900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2553. en:see also familial developmental dysphasia (600117) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also familial developmental dysphasia (600117) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2554. en:see also peeling skin syndrome, acral type (609796) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2555. en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2556. en:see also pseudohypoparathyroidism type ia (103580) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2557. en:see also severe, early-onset form (300717) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also severe, early-onset form (300717) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2558. en:see also two x-linked forms 300633 and 300758 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also two x-linked forms 300633 and 300758 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2559. en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2560. en:seen more frequently in infants of diabetic mothers --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seen more frequently in infants of diabetic mothers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2561. en:seizure severity and frequency tend to improve with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure severity and frequency tend to improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2562. en:seizures are easily controlled by medications --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are easily controlled by medications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2563. en:seizures are provoked by immersion in hot or warm water --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are provoked by immersion in hot or warm water | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2564. en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2565. en:seizures tend to remit later in childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures tend to remit later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2566. en:seizures usually occur in the first months of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures usually occur in the first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2567. en:sensory loss is rapidly progressive and severe --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sensory loss is rapidly progressive and severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2568. en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2569. en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2570. en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2571. en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2572. en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2573. en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2574. en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2575. en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2576. en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2577. en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2578. en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2579. en:severe epilepsy may lead to early death --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe epilepsy may lead to early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2580. en:severity of skin symptoms may vary within families --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severity of skin symptoms may vary within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2581. en:short limbs become more apparent during childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:short limbs become more apparent during childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2582. en:significant clinical overlap with sotos syndrome (117550) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2583. en:similar clinical features to edsi (130000) but less severe --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar clinical features to edsi (130000) but less severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2584. en:sister of affected male siblings had mild learning disabilities and obesity --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2585. en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2586. en:skin changes have onset in childhood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin changes have onset in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2587. en:skin lesions resolve between 6 months and 2 years of age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2588. en:skin lesions worsen with heat or sun exposure --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions worsen with heat or sun exposure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2589. en:skin manifestations may not be present --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin manifestations may not be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2590. en:slc25a4 mutations account for approximately 4% of all peo cases --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2591. en:smaller repeat lengths in younger generations (reverse anticipation) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2592. en:solitary disease is more common in males --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:solitary disease is more common in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2593. en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2594. en:some heterozygous carriers may have mild manifestations --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some heterozygous carriers may have mild manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2595. en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2596. en:some patients develop diabetes mellitus as adolescents --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients develop diabetes mellitus as adolescents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2597. en:some patients do not achieve independent ambulation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not achieve independent ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2598. en:some patients do not develop stroke --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not develop stroke | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2599. en:some patients have a secreted but biologically inactive mutant leptin --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2600. en:some patients have asymptomatic hypocalcemia --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have asymptomatic hypocalcemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2601. en:some patients have juvenile-onset myoclonic epilepsy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2602. en:some patients have later onset and more variable phenotype (mngie) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2603. en:some patients may be asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2604. en:some patients may have normal development until onset of seizures in infancy --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2605. en:some patients may show a favorable response to oral coenzyme q10 supplementation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2606. en:some patients may show mild decrease in head circumference over time --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may show mild decrease in head circumference over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2607. en:some patients require cardiac transplantation --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients require cardiac transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2608. en:some pedigrees are consistent with autosomal dominant inheritance --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2609. en:some phenotypic overlap with rett syndrome (312750) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2610. en:spasticity is slowly progressive --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spasticity is slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2611. en:sporadic occurrence --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sporadic occurrence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2612. en:static or slowly progressive --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:static or slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2613. en:stillborn or infantile death usual in prenatal form --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stillborn or infantile death usual in prenatal form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2614. en:subtype 3a comprises myoclonus and dementia --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtype 3a comprises myoclonus and dementia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2615. en:sudden death within first days of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death within first days of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2616. en:sudden infantile death may occur --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden infantile death may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2617. en:survival greater than one year rare --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival greater than one year rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2618. en:symptoms often improve gradually with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms often improve gradually with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2619. en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2620. en:symptoms show insidious onset in the late first through third decades --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms show insidious onset in the late first through third decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2621. en:symptoms tend to improve with age --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms tend to improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2622. en:telangiectasia become evident between the second and eighth year of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2623. en:temperature instability --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:temperature instability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2624. en:the lower the s-ado:saicr ratio, the more severe the phenotype --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the lower the s-ado:saicr ratio, the more severe the phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2625. en:three girls from 2 unrelated families have been reported (last curated june 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2626. en:three patients from 1 french canadian family have been reported (last curated november 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2627. en:three patients have been reported (as of august 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2628. en:three unrelated caucasian patients have been reported (as of january 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2629. en:three unrelated girls have been reported (as of july 2011) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2630. en:toe-walking gait --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:toe-walking gait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2631. en:tooth agenesis ranges from 1 missing tooth to marked oligodontia --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2632. en:torso and upper body remain normal in shape and contour --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:torso and upper body remain normal in shape and contour | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2633. en:treatment with oral coenzyme q may ameliorate symptoms --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2634. en:tumor predisposition syndrome --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tumor predisposition syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2635. en:two affected sibs have been reported (last curated july 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2636. en:two brothers have been reported (as of february 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two brothers have been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2637. en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2638. en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2639. en:two families have been reported (september 2010) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (september 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2640. en:two japanese patients have been reported (last curated march 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2641. en:two of 3 patients became wheelchair-bound --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two of 3 patients became wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2642. en:two patients without cardiomyopathy or cataracts have been reported --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2643. en:two peaks of onset, childhood and adult --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two peaks of onset, childhood and adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2644. en:two sibs have been reported (last curated may 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2645. en:two sisters have been reported (last curated february 2015) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sisters have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2646. en:two thirds of patients are female --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two thirds of patients are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2647. en:two unrelated consanguineous families have been reported (last curated january 2015) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2648. en:two unrelated families have been reported (last curated july 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2649. en:two unrelated families have been reported (last curated november 2013) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2650. en:two unrelated patients have been reported (last curated october 2012) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2651. en:two unrelated patients have been reported (last curated september 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2652. en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2653. en:type 2cb is characterized by defective binding affinity for collagen types i and iii --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2654. en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2655. en:type iiia has both liver and muscle involvement --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type iiia has both liver and muscle involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2656. en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2657. en:usually asymptomatic --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2658. en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2659. en:usually occurs in young adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually occurs in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2660. en:usually poor response to steroid treatment --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually poor response to steroid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2661. en:usually presents in third to fourth decade (but onset can range from childhood to elderly) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2662. en:usually sporadic, few cases described with autosomal dominant inheritance --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2663. en:variable abnormalities --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2664. en:variable age at onset (earliest reported 7 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (earliest reported 7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2665. en:variable age at onset, early childhood to adult --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, early childhood to adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2666. en:variable age at onset, infancy to adulthood --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, infancy to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2667. en:variable age at onset, range infancy to adult --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, range infancy to adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2668. en:variable age at onset, ranges from third to fifth decade of life --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2669. en:variable age at onset, ranging from childhood to adult --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, ranging from childhood to adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2670. en:variable age of onset (7-59 years) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (7-59 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2671. en:variable age of onset (range early childhood to adult) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range early childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2672. en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2673. en:variable expressivity of each feature --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expressivity of each feature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2674. en:variable manifestation of features --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable manifestation of features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2675. en:variable progression rate --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable progression rate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2676. en:variable response to acetylcholinesterase inhibitors --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable response to acetylcholinesterase inhibitors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2677. en:variable severity (in patients with hsan2d) --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity (in patients with hsan2d) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2678. en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2679. en:virtually all patients with this condition are female --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:virtually all patients with this condition are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2680. en:visceral manifestations are less apparent --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visceral manifestations are less apparent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2681. en:waddling gait noted at age 15-20 months --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:waddling gait noted at age 15-20 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2682. en:worldwide prevalence of 1/100,000 --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worldwide prevalence of 1/100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2683. rétinite pigmentaire --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2684. rétinite pigmentaire liée à la périphérine --- r_associated #0: 27 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire liée à la périphérine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=27
  2685. en:'second wind' phenomenon --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:'second wind' phenomenon | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2686. en:2-3% due to imprinting defects --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:2-3% due to imprinting defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2687. en:3 reported cases, 1 pedigree of affected sibs, neither parent affected --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2688. en:50% of cases are de novo --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:50% of cases are de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2689. en:85-90% with manifestations in first months of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:85-90% with manifestations in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2690. en:98% of finnish cases due to one mutation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:98% of finnish cases due to one mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2691. en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2692. en:a nonspecific marker of somatic mosaicism --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a nonspecific marker of somatic mosaicism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2693. en:a subset of patients are responsive to vitamin b12 therapy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2694. en:a subset of patients have heterozygous mutations, which may predispose to disease development --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2695. en:acute attacks lasting 24-48 hours --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acute attacks lasting 24-48 hours | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2696. en:acute episodes decrease with age and disappear --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acute episodes decrease with age and disappear | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2697. en:acute neurologic deterioration after viral illness has been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2698. en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2699. en:adult onset (range 40 to 60 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 40 to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2700. en:adult onset (second to sixth decade) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (second to sixth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2701. en:adult onset (sixth decade) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (sixth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2702. en:adult onset (third decade) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (third decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2703. en:adult onset after puberty --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2704. en:adult onset of symptoms has been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset of symptoms has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2705. en:affected infants appear normal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected infants appear normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2706. en:affected patients have various combinations of the main clinical features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected patients have various combinations of the main clinical features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2707. en:affects between 1 in 200 to 1 in 400 individuals of northern european descent --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2708. en:age at diagnosis 2-4 months --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 2-4 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2709. en:age at diagnosis of cataract may range up to 40 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2710. en:age at menopause:time:point in time:^patient:quantitative --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2711. en:age of onset from 18 to 45 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset from 18 to 45 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2712. en:age on onset - adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age on onset - adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2713. en:all reported cases have occurred sporadically --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported cases have occurred sporadically | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2714. en:allelic disorder to autosomal dominant form (129490) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2715. en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2716. en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2717. en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2718. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2719. en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2720. en:allelic disorder to usher syndrome type 1f (602083) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2721. en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2722. en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2723. en:allelic to dentin dysplasia, type 2 (125420) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2724. en:allelic to dentinogenesis imperfecta 1 (125490) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2725. en:allelic to hand osteoarthritis (607850) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hand osteoarthritis (607850) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2726. en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2727. en:allelic to kenny-caffey syndrome type 1 (244460) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2728. en:allelic to naxos disease (601214) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to naxos disease (601214) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2729. en:allelic to neurofibromatosis-1 (nf1, 162200) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2730. en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2731. en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2732. en:allelic to pseudoachondroplasia (177170) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to pseudoachondroplasia (177170) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2733. en:allelic to tyrosinemia, type iii (276720) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2734. en:alopecia may spontaneously regress, become chronic, or spread diffusely --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2735. en:ambulation usually not achieved --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ambulation usually not achieved | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2736. en:anemia may show favorable response to alpha-interferon treatment --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2737. en:apparent in newborn at birth --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:apparent in newborn at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2738. en:approximately half of patients need ambulatory support after the fifth decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2739. en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2740. en:associated with myoclonic epilepsy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with myoclonic epilepsy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2741. en:autosomal dominant omodysplasia has also been described (164745) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2742. en:autosomal recessive cytochrome b-negative cgd (233690) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2743. en:autosomal recessive cytochrome b-positive cgd, type i --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2744. en:autosomal recessive cytochrome b-positive cgd, type ii (233710) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2745. en:autosomal recessive inheritance has been reported in 1 family --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2746. en:autosomal recessive inheritance in one family (see 603342.0010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2747. en:based on 1 report of monozygotic twins (last curated may 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2748. en:based on 1 uruguayan family (last curated april 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2749. en:based on report of 1 3-generation family (last curated november 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2750. en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2751. en:behavioral problems including stubbornness and rage --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:behavioral problems including stubbornness and rage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2752. en:benign, asymptomatic defect --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:benign, asymptomatic defect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2753. en:birth date:time stamp -- date and time:point in time:^patient:quantitative --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2754. en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2755. en:can be effectively treated with n-carbamylglutamate --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be effectively treated with n-carbamylglutamate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2756. en:cardiac examination is usually unremarkable --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac examination is usually unremarkable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2757. en:carrier frequency 1:1,000 in french-canadians in quebec --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2758. en:cataracts are progressive but may vary between eyes of an individual --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2759. en:caused by heterozygous germline mutation and second-hit somatic mutation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2760. en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2761. en:chronic, relapsing condition --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chronic, relapsing condition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2762. en:classical form (type i), less severe with survival into adulthood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classical form (type i), less severe with survival into adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2763. en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2764. en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2765. en:clonazepam and diazepam may be effective in preventing or lessening severity --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2766. en:complementation group c (variant mliii, 252605) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complementation group c (variant mliii, 252605) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2767. en:complete absence of melanin synthesis --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete absence of melanin synthesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2768. en:complete penetrance with variable expressivity --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete penetrance with variable expressivity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2769. en:condition is experienced by patients as harmless and is often discovered incidentally --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2770. en:considered to be a severe form of gaucher disease type ii (230900) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2771. en:contiguous gene syndrome --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2772. en:corrected by bone marrow transplantation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:corrected by bone marrow transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2773. en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2774. en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2775. en:cyp2d6 represents about 1% of total liver cytochrome p450 content --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2776. en:de novo mutation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2777. en:death at 10 to 15 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death at 10 to 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2778. en:death before age 3 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death before age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2779. en:death in first weeks of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in first weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2780. en:death in the first decade, usually from liver failure --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in the first decade, usually from liver failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2781. en:death in utero or early infancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero or early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2782. en:death occurs before 12 months of age due to cardiorespiratory arrest --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2783. en:death often by age 2 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2784. en:death often occurs in the first decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often occurs in the first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2785. en:death within several months if untreated --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within several months if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2786. en:decreased bilirubin concentration with phenobarbital administration --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2787. en:described in one 5-generation pakistani family (last curated april 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2788. en:developmental anomaly --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:developmental anomaly | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2789. en:diabetes and anemia respond to high doses of thiamine supplementation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2790. en:diabetes status:prid:pt:^patient:nom --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diabetes status:prid:pt:^patient:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2791. en:diarrhea persists even with vigorous nursing --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diarrhea persists even with vigorous nursing | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2792. en:distinct disorder from familial erythrocytosis (ecyt1, 133100) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2793. en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2794. en:dyskinesia may be precipitated by alcohol, stress, or fatigue --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2795. en:dysmorphic facial features are variable --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic facial features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2796. en:dysmorphic features are variable --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2797. en:early age of onset, usually less than 3 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early age of onset, usually less than 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2798. en:early-onset severe renal disease --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early-onset severe renal disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2799. en:endocrine defects evolve over time --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:endocrine defects evolve over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2800. en:episode, syncopal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episode, syncopal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2801. en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2802. en:episodes usually last 1 to 2 days --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes usually last 1 to 2 days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2803. en:estimated prevalence of 1 in 16,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated prevalence of 1 in 16,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2804. en:facial palsy often transient in infancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial palsy often transient in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2805. en:familial form --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2806. en:fatal without hematopoietic stem cell transplantation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal without hematopoietic stem cell transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2807. en:fatal without lung transplant --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal without lung transplant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2808. en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2809. en:favorable response to 3,4-diaminopyridine --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to 3,4-diaminopyridine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2810. en:favorable response to bh4 therapy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to bh4 therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2811. en:favorable response to oral bile acid therapy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to oral bile acid therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2812. en:favorable response to spironolactone --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to spironolactone | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2813. en:feet are unaffected in some patients --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:feet are unaffected in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2814. en:female carriers may be less severely affected --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may be less severely affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2815. en:female mutation carriers have earlier age at onset compared to male mutation carriers --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2816. en:few familial (parent offspring) cases reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:few familial (parent offspring) cases reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2817. en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2818. en:five patients have been reported (as of april 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five patients have been reported (as of april 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2819. en:four clinical forms of krabbe disease --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four clinical forms of krabbe disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2820. en:fracture frequency decreased post puberty --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fracture frequency decreased post puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2821. en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency and severity of symptoms do not worsen with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2822. en:generalized fatigue --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generalized fatigue | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2823. en:genetic anticipation has been observed --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic anticipation has been observed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2824. en:genetic heterogeneity (see 159900) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 159900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2825. en:genetic heterogeneity (see 605407) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 605407) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2826. en:genetic heterogeneity (see 609192) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 609192) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2827. en:genetic heterogeneity (see 610168) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 610168) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2828. en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2829. en:genetic heterogeneity (see bafme1, 601068) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see bafme1, 601068) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2830. en:genetic heterogeneity (see bafme2, 607876) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2831. en:genetic heterogeneity (see bfic2, 605751) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2832. en:genetic heterogeneity (see cnc2, 605244) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2833. en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2834. en:genetic heterogeneity (see gefs+, 604233) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2835. en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2836. en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2837. en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2838. en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2839. en:genetic heterogeneity, see ppnad2 (610475) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2840. en:genetic heterogeneity, see spg3a (182600) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2841. en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2842. en:gms is goniodysgenesis, mental deficiency, and short stature --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2843. en:good response to medication --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to medication | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2844. en:group a patients die in the first years of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:group a patients die in the first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2845. en:hair tends to straighten by 2nd-3rd decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2846. en:half (50%) of affected patients have a recurrent episode with worse outcome --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2847. en:hernia occurs in 22% of adults --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hernia occurs in 22% of adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2848. en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2849. en:heterozygotes exhibit blue sclerae and soft velvety skin --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2850. en:heterozygotes have mild, transient hypothyroidism in infancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2851. en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2852. en:high frequency in the french-canadian population --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in the french-canadian population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2853. en:high risk of recurrence after surgery --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high risk of recurrence after surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2854. en:highly variable expression --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable expression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2855. en:histologic features overlap with henoch-schonlein purpura (hspn) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2856. en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2857. en:homozygous patients have earlier-onset and more severe disease --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2858. en:improvement of abnormal muscle biopsy and cox deficiency --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2859. en:improvement of epimetaphyseal changes with age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:improvement of epimetaphyseal changes with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2860. en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2861. en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2862. en:incidence in japan is 1 in 57,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence in japan is 1 in 57,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2863. en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2864. en:incidence of 1 in 1,000,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 1,000,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2865. en:incidence of 1 in 100 in some local nordic areas --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2866. en:incidence of 1 in 276,000 in the netherlands --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2867. en:incidence of 1 in 3,900 births among jewish persons --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2868. en:incidence of 1/50,000 births --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1/50,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2869. en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2870. en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2871. en:increased frequency among individuals of east asian descent --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency among individuals of east asian descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2872. en:increased frequency among japanese and chinese --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency among japanese and chinese | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2873. en:increased frequency among jewish iranian individuals from isfahan --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2874. en:increased frequency in persian jews (1:1,300) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in persian jews (1:1,300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2875. en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2876. en:independent ambulation is maintained --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:independent ambulation is maintained | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2877. en:infantile form has onset within first 6 months of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile form has onset within first 6 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2878. en:infants occasionally mistaken as having down syndrome --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants occasionally mistaken as having down syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2879. en:insidious onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:insidious onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2880. en:intermediate levels of factor x in mildly symptomatic heterozygotes --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2881. en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2882. en:involuntary and nonvolitional phenomenon --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:involuntary and nonvolitional phenomenon | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2883. en:juvenile and adult forms are isolated glycerol kinase deficiency --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2884. en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2885. en:l-dopa-induced dyskinesias --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:l-dopa-induced dyskinesias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2886. en:late-adult onset (fifth to sixth decade) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-adult onset (fifth to sixth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2887. en:late-adult onset (range 50 to 80 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-adult onset (range 50 to 80 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2888. en:late-adult onset (usually after age 50 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-adult onset (usually after age 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2889. en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2890. en:later onset has been reported (third or fourth decades) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset has been reported (third or fourth decades) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2891. en:lethal in 40% of patients --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lethal in 40% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2892. en:levodopa-induced dyskinesias --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:levodopa-induced dyskinesias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2893. en:lipodystrophic appearance may be mild or not present --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lipodystrophic appearance may be mild or not present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2894. en:live born infants die within few hours of birth --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:live born infants die within few hours of birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2895. en:loss of ambulation within 10 years of onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of ambulation within 10 years of onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2896. en:loss of tumor suppressor gene --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of tumor suppressor gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2897. en:lower limb involvement precedes upper limb involvement --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lower limb involvement precedes upper limb involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2898. en:lymphedema that presents at puberty is called meige disease (153200) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2899. en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2900. en:majority are isolated cases --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority are isolated cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2901. en:males are more severely affected --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males are more severely affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2902. en:malnutrition can be severe, requiring total parenteral nutrition --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2903. en:maternal imprinting --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:maternal imprinting | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2904. en:may be asymptomatic --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2905. en:may be benign condition --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be benign condition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2906. en:may be lethal if untreated --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be lethal if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2907. en:may be same entity as elejalde syndrome (256710) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be same entity as elejalde syndrome (256710) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2908. en:mean age at onset 16.5 years (range 9 to 35 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2909. en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2910. en:mean age at onset of bone disease is 40 years (range 23-65) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2911. en:mean age at onset of bone fractures, 24 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of bone fractures, 24 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2912. en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2913. en:mean age of onset 22 years (range 5-54) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 22 years (range 5-54) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2914. en:median age of onset of leukoplakia - 7 years (range 1-26 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2915. en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2916. en:mild cases show clinical, biochemical, and mri improvement after the second year of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2917. en:more common in females --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2918. en:more common in men than women --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in men than women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2919. en:more commonly observed in women --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more commonly observed in women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2920. en:most cases result from de novo mutation or deletion of rai1 (607642) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2921. en:most cases sporadic --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2922. en:most common form of congenital methemoglobinemia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of congenital methemoglobinemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2923. en:most mutations occur de novo --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most mutations occur de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2924. en:most patients are asymptomatic --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2925. en:most patients are clinically asymptomatic --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are clinically asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2926. en:most patients die in childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2927. en:most patients die in first years of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2928. en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2929. en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2930. en:motor fluctuations --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor fluctuations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2931. en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2932. en:muscle involvement shows onset at birth or in infancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:muscle involvement shows onset at birth or in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2933. en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2934. en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2935. en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2936. en:myoclonic seizures occur on awakening or within 2 hours of awakening --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2937. en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2938. en:neonatal lethal due to respiratory insufficiency --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal lethal due to respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2939. en:neuroendocrine recovery occurs in some patients --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuroendocrine recovery occurs in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2940. en:new skin lesions stop appearing before adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:new skin lesions stop appearing before adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2941. en:no abdominal symptoms or neurologic symptoms in harderoporphyria --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2942. en:no cardiac or immune defects in patients from the 2 reported families --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2943. en:no consistent dysmorphic facial phenotype --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no consistent dysmorphic facial phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2944. en:nonprogressive --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonprogressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2945. en:nonreflex epilepsy may occur later in 16 to 38% of patients --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2946. en:nonsyndromic disorder --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonsyndromic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2947. en:normal alleles contain 15 to 50 repeats --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles contain 15 to 50 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2948. en:normal physical and neurologic development --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal physical and neurologic development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2949. en:normal range of expanded repeats 9-29, hd range 36-121 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2950. en:not all patients have facial dysmorphism --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not all patients have facial dysmorphism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2951. en:occurs on right side in 75% of cases --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs on right side in 75% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2952. en:often associated with chiari type i malformation (cm1, 118420) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2953. en:often fatal due in infancy due to intractable diarrhea --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2954. en:often reared as females until puberty --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often reared as females until puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2955. en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2956. en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2957. en:one consanguineous pakistani family has been reported (as of january 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2958. en:one consanguineous turkish family has been reported (last curated july 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2959. en:one family has been reported (as of 4/2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of 4/2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2960. en:one family has been reported (as of august 2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of august 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2961. en:one family has been reported (as of october 2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of october 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2962. en:one family has been reported (last curated january 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2963. en:one family has been reported (last curated november 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2964. en:one family of algerian descent has been reported (last curated february 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2965. en:one family reported with piezo2 mutation (last curated january 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2966. en:one family with 2 affected brothers has been reported (last curated november 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2967. en:one family with 2 affected fetuses has been reported (as of august 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2968. en:one family with 5 affected members has been reported (last curated september 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2969. en:one family with confirmed genetic basis has been reported (last curated september 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2970. en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2971. en:one patient had onset at birth and a more severe disorder resulting in death at a young age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2972. en:one patient has been reported (as of curation date may, 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2973. en:one patient has been reported (as of february 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2974. en:one patient has been reported (as of january 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2975. en:one patient has been reported (last curated september 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2976. en:one patient reported (last curated november 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2977. en:one patient was less severely affected --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient was less severely affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2978. en:one patient with a homozygous mutation has been reported (as of 14 june 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2979. en:one patient with episodic ataxia and later onset has been reported (as of june 2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2980. en:one patient with normal cognition has been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with normal cognition has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2981. en:one patient with severe congenital onset has been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with severe congenital onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2982. en:only 46,xy individuals are affected --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only 46,xy individuals are affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2983. en:onset - present at birth --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset - present at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2984. en:onset 2-4 years of age in iia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 2-4 years of age in iia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2985. en:onset 70-90 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 70-90 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2986. en:onset after age 40 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset after age 40 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2987. en:onset around adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset around adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2988. en:onset at early age, associated with sudden death in childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at early age, associated with sudden death in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2989. en:onset between 3 and 6 months of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 3 and 6 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2990. en:onset between age 30-50 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between age 30-50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2991. en:onset between ages 10 and 25 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between ages 10 and 25 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2992. en:onset by age 2 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2993. en:onset first to seventh decade with 30 to 40 year mode --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2994. en:onset in childhood (6-7 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (6-7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2995. en:onset in childhood (mean age 10 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (mean age 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2996. en:onset in childhood or second decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2997. en:onset in childhood or youth --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or youth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2998. en:onset in childhood, adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood, adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  2999. en:onset in early childhood or adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3000. en:onset in early to late childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early to late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3001. en:onset in females ranges from third to seventh decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in females ranges from third to seventh decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3002. en:onset in fifth or sixth decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fifth or sixth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3003. en:onset in first decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3004. en:onset in first month of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first month of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3005. en:onset in first months or years of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first months or years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3006. en:onset in infancy after weaning --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy after weaning | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3007. en:onset in infancy and third decade had been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy and third decade had been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3008. en:onset in infancy or early childhood (before age 3 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3009. en:onset in infancy was reported in 1 family --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy was reported in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3010. en:onset in neonatal period or before age 2 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in neonatal period or before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3011. en:onset in second decade or as young adult --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second decade or as young adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3012. en:onset in second decade, but sometimes earlier --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second decade, but sometimes earlier | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3013. en:onset in second to third decades (postlingual) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second to third decades (postlingual) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3014. en:onset in the first decade (range birth to 8 years) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first decade (range birth to 8 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3015. en:onset in the perinatal period --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the perinatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3016. en:onset occurs earlier in males than females --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset occurs earlier in males than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3017. en:onset of dementia in the thirties or forties --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of dementia in the thirties or forties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3018. en:onset of disease after fourth decade of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease after fourth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3019. en:onset of disease around 10 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease around 10 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3020. en:onset of disease in fourth or fifth decade of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease in fourth or fifth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3021. en:onset of joint contractures later in life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of joint contractures later in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3022. en:onset of linear striations between 5 months and 6 years (only in affected females) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3023. en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3024. en:onset of palmoplantar hyperkeratosis 7-8 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3025. en:onset of scoliosis as early as 2 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of scoliosis as early as 2 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3026. en:onset of seizures between 8 and 11 months of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures between 8 and 11 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3027. en:onset of seizures in infancy or early childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3028. en:onset of sleepwalking between 4 and 8 years old --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3029. en:onset of symptoms 2-6 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms 2-6 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3030. en:onset often in late adolescence --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset often in late adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3031. en:onset second decade of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3032. en:onset usually in early childhood, although ranges from birth to adulthood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3033. en:onset usually in the first 4 years of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in the first 4 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3034. en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3035. en:other muscle become involved about 5 years after onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other muscle become involved about 5 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3036. en:pain is noted to feel cold --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pain is noted to feel cold | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3037. en:part of 'dent disease complex' (see 300009) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:part of 'dent disease complex' (see 300009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3038. en:patients can have als, ftd, or both --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients can have als, ftd, or both | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3039. en:patients can have multiple seizure types --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients can have multiple seizure types | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3040. en:patients from old order amish community and turkey have been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients from old order amish community and turkey have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3041. en:patients have normal levels of vitamin a, beta-carotene, and zinc --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3042. en:patients may become wheelchair-bound after about 12 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may become wheelchair-bound after about 12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3043. en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3044. en:patients need lifelong total parenteral nutrition --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients need lifelong total parenteral nutrition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3045. en:patients younger than 30 years complain only that they cannot run fast --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3046. en:penetrance 86% by 50 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance 86% by 50 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3047. en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3048. en:peo is not always present --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:peo is not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3049. en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3050. en:persistence of febrile seizures beyond age 6 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:persistence of febrile seizures beyond age 6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3051. en:persistent bleeding after trauma --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:persistent bleeding after trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3052. en:phenotype is classically defined as aplasia cutis and transverse limb defects --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3053. en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3054. en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3055. en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3056. en:phenotypic variability within families and among patients carrying the same mutation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3057. en:pigmentation not always butterfly-shaped --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pigmentation not always butterfly-shaped | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3058. en:pigmented spots appear in infancy through childhood and fade in adulthood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3059. en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3060. en:present in infancy in all affected individuals --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:present in infancy in all affected individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3061. en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3062. en:presumed autosomal dominant with incomplete penetrance --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3063. en:prevalence approximately 1 in 4,000 males --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence approximately 1 in 4,000 males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3064. en:prevalence of 1 in 1,500 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 1,500 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3065. en:prevalence of 1 in 200,000 to 1 in 800,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3066. en:prevalence of 1 in 40,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 40,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3067. en:prevalence of 1 in 7,900 in cameroon --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3068. en:prevalence of approximately 1 in 2000 individuals --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3069. en:prevalence of in 1 in 8,000 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of in 1 in 8,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3070. en:prevalence of sleepwalking about 3% in adults --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of sleepwalking about 3% in adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3071. en:prevalent in newfoundland --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in newfoundland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3072. en:primarily diagnosed in females --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:primarily diagnosed in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3073. en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3074. en:progressive disease is seen in some patients --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disease is seen in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3075. en:progressive disorder due to secondary myopathy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disorder due to secondary myopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3076. en:rapidly progressive disorder --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3077. en:rapidly progressive to persistent vegetative state or death --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive to persistent vegetative state or death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3078. en:rare adult onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3079. en:reason for lab test:type:pt:bld.dot:nom --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3080. en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3081. en:recurrent bacterial, viral, and fungal infections --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent bacterial, viral, and fungal infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3082. en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3083. en:reduced fertility --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced fertility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3084. en:reduced penetrance (approximately 87%) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance (approximately 87%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3085. en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3086. en:responsive to oral mannose therapy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:responsive to oral mannose therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3087. en:see also adult-onset stiff person syndrome (184850) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3088. en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3089. en:see also autosomal dominant form (176860) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant form (176860) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3090. en:see also autosomal dominant lutheran-null phenotype (111150) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3091. en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3092. en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3093. en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3094. en:see also pgl1 (168000) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pgl1 (168000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3095. en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3096. en:see also x-linked dominant form (300652) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked dominant form (300652) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3097. en:seizure frequency decreases during early childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure frequency decreases during early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3098. en:seizure onset after 3 months --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure onset after 3 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3099. en:seizure onset between 3 and 11 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure onset between 3 and 11 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3100. en:seizures are usually intractable --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are usually intractable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3101. en:seizures easily controlled by medications --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures easily controlled by medications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3102. en:seizures may be triggered by infection --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may be triggered by infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3103. en:seizures remit spontaneously by age 5 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures remit spontaneously by age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3104. en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3105. en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3106. en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3107. en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3108. en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3109. en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3110. en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3111. en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3112. en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3113. en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3114. en:seven patients reported (as of march 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seven patients reported (as of march 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3115. en:severe clinical course --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe clinical course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3116. en:severe involvement of legs --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe involvement of legs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3117. en:skin abnormalities can be present at birth or appear later in infancy or childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3118. en:skin changes are progressive in childhood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin changes are progressive in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3119. en:skin lesions are fully penetrant by second decade --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions are fully penetrant by second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3120. en:skin lesions are primarily trauma-induced but occasionally appear spontaneously --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3121. en:skin peeling exacerbated by heat, friction, and humidity --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3122. en:sleepwalking triggered by alcohol, sleep deprivation, stress --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3123. en:some carrier females have mild features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some carrier females have mild features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3124. en:some families have axonal cmt (cmt2m) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some families have axonal cmt (cmt2m) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3125. en:some patients are clinically unaffected. --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients are clinically unaffected. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3126. en:some patients do not develop renal failure --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not develop renal failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3127. en:some patients do not show neurologic abnormalities or dysmorphic features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3128. en:some patients may present with adult-onset small fiber neuropathy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3129. en:some patients may show response to immunosuppressive agents --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may show response to immunosuppressive agents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3130. en:some patients report cyclical changes in severity of symptoms --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients report cyclical changes in severity of symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3131. en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3132. en:spontaneous resolution by 12 months of age with no recurrence later in life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3133. en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3134. en:stillborn or death in infancy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stillborn or death in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3135. en:subset of patients have cytochrome c oxidase deficiency (see 220110) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3136. en:sudden death secondary to impaction of medulla oblongata --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3137. en:surgical intervention is not always curative --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:surgical intervention is not always curative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3138. en:survival to 5-15 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival to 5-15 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3139. en:susceptibility to infections start in the first year of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:susceptibility to infections start in the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3140. en:symptoms can be prevented by strict dietary restriction --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms can be prevented by strict dietary restriction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3141. en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3142. en:symptoms may be precipitated by infection --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms may be precipitated by infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3143. en:symptoms noted at 2-3 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms noted at 2-3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3144. en:symptoms usually induced only by strenuous exercise --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually induced only by strenuous exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3145. en:syncope --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:syncope | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3146. en:telangiectases persist in adulthood --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:telangiectases persist in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3147. en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3148. en:thoracic abnormalities tend to improve with age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thoracic abnormalities tend to improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3149. en:three affected sibs have been reported --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three affected sibs have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3150. en:three amish patients have been reported (as of february 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three amish patients have been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3151. en:three families have been reported (as of december 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (as of december 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3152. en:three families have been reported (last curated november 2010) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (last curated november 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3153. en:three main clinical forms --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three main clinical forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3154. en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3155. en:three unrelated patients have been reported (last curated september 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3156. en:time of analysis:tmstp:pt:xxx:qn --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3157. en:trauma, anxiety, and/or stress can precipitate or aggravate edema --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3158. en:tremor is aggravated by low glucose or light --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tremor is aggravated by low glucose or light | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3159. en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3160. en:twelve or more lesions per eye in individuals over 60 years of age --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3161. en:two families described (last curated november 2013) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families described (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3162. en:two families have been reported (as of june 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3163. en:two families have been reported (as of march 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of march 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3164. en:two families have been reported (last curated december 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3165. en:two families have been reported (last curated february 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3166. en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3167. en:two sibs have been reported (last curated november 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3168. en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3169. en:two unrelated families have been reported (last curated february 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3170. en:two unrelated individuals have been reported (last curated january 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3171. en:two unrelated patients have been reported (as of may 2011) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3172. en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3173. en:two unrelated patients reported (last curated september 2012) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients reported (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3174. en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3175. en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3176. en:type iia tends to have more severe phenotype with earlier onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3177. en:type iii is intermediate form --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type iii is intermediate form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3178. en:typically no physical features of albright hereditary osteodystrophy (aho) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3179. en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3180. en:uniparental disomy --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:uniparental disomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3181. en:upper urinary tract usually normal --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:upper urinary tract usually normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3182. en:usually fatal within the first few weeks of life --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually fatal within the first few weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3183. en:variable age at onset (birth to adult) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (birth to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3184. en:variable age at onset (childhood to age 50) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (childhood to age 50) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3185. en:variable age at onset (range from early childhood to mid-adult) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3186. en:variable clinical features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable clinical features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3187. en:variable clinical severity --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable clinical severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3188. en:variable features --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3189. en:variable ictal semiology --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable ictal semiology | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3190. en:variable manifestations --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3191. en:variable phenotype ranging from woolly to sparse hair, even within a single family --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3192. en:variable phenotype, some patients have very mild symptoms --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype, some patients have very mild symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3193. en:variable phenotypic expression --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotypic expression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3194. en:variable severity (mild symptoms to severe handicap) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity (mild symptoms to severe handicap) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3195. en:variation in slc24a5 has also been associated with variation in skin color (shep4) --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3196. en:very rare --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:very rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3197. en:wheelchair use by 10-30 years --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wheelchair use by 10-30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3198. en:wide spectrum of severity --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide spectrum of severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3199. en:young adult onset --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:young adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3200. en:young-adult onset (18-30 years) of sensory ataxia --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3201. létale --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=létale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3202. rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 26 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=26
  3203. en:1 in 50,000 in korea --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:1 in 50,000 in korea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3204. en:35% of patients have facial dysmorphism --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:35% of patients have facial dysmorphism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3205. en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3206. en:7 unrelated patients have been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:7 unrelated patients have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3207. en:75% of affected individuals are female --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:75% of affected individuals are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3208. en:a subset of patients improve with thiamine --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients improve with thiamine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3209. en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3210. en:acetazolamide is often effective --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acetazolamide is often effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3211. en:acquired protein c deficiency seen in liver disease, dic, and following surgery --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3212. en:acral form of skin peeling limited to hands and feet (609796) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3213. en:additional features are variably present --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:additional features are variably present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3214. en:adolescent or adult onset associated with neuropsychiatric symptoms --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3215. en:adult onset (range 28 to 55 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 28 to 55 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3216. en:adult onset has been reported (age 50 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset has been reported (age 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3217. en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3218. en:affected individuals have amnesia for events --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals have amnesia for events | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3219. en:affects up to 10% of women in their reproductive years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affects up to 10% of women in their reproductive years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3220. en:age at diagnosis 36 +/- 20 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 36 +/- 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3221. en:age at onset ranges from first to sixth decade --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset ranges from first to sixth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3222. en:age of onset - birth to 15 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset - birth to 15 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3223. en:age of onset 17 to 68 years (mean 39) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 17 to 68 years (mean 39) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3224. en:age of onset 43-64 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 43-64 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3225. en:age of onset 6-10 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 6-10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3226. en:age of onset, 6-20 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset, 6-20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3227. en:all patients have duplication of at least the crebbp gene (600140) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3228. en:all reported cases have resulted from de novo mutations --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported cases have resulted from de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3229. en:all reported patients are female --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported patients are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3230. en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3231. en:allelic disorder to androgen insensitivity syndrome (ais, 300068) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3232. en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3233. en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3234. en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3235. en:allelic disorder to nf1 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to nf1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3236. en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3237. en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3238. en:allelic to anterior segment mesenchymal dysgenesis (107250) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3239. en:allelic to birt-hogg-dube syndrome (135150) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3240. en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3241. en:allelic to leopard syndrome (151100) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to leopard syndrome (151100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3242. en:allelic to mevalonic aciduria (610377) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to mevalonic aciduria (610377) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3243. en:allelic to myosin storage myopathy (608358) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to myosin storage myopathy (608358) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3244. en:allelic to noonan syndrome (163950) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to noonan syndrome (163950) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3245. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3246. en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3247. en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3248. en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3249. en:allelic to waardenburg syndrome, type iia (193510) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3250. en:ambulation difficulty --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ambulation difficulty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3251. en:appear normal at birth --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:appear normal at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3252. en:approximately 50db loss in adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 50db loss in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3253. en:arteriovenous malformations can occur throughout the body --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:arteriovenous malformations can occur throughout the body | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3254. en:associated with a balanced translocation t(12,22)(p11.2,q13.3) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3255. en:associated with increasing age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with increasing age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3256. en:associated with tuberous sclerosis (191100) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with tuberous sclerosis (191100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3257. en:attacks are not responsive to acetazolamide --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks are not responsive to acetazolamide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3258. en:autosomal dominant (177000.0003) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant (177000.0003) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3259. en:autosomal dominant inheritance has been rarely reported (187800) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3260. en:autosomal dominant inheritance has been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant inheritance has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3261. en:autosomal dominant transmission has been rarely reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant transmission has been rarely reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3262. en:autosomal recessive inheritance has been suggested --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been suggested | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3263. en:autosomal recessive inheritance with earlier onset has been suggested --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3264. en:average age at onset 16.6 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 16.6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3265. en:average age at onset 38 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at onset 38 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3266. en:based on 2 reported patients (last curated january 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 reported patients (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3267. en:based on 2 reports of 3 patients (last curated september 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3268. en:based on 2 siblings in 1 family (last curated september 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3269. en:based on report of 1 consanguineous turkish family (last curated june 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3270. en:bilateral involvement in 10% of cases --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bilateral involvement in 10% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3271. en:blistering becomes confined to the palms and soles with age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blistering becomes confined to the palms and soles with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3272. en:blood glucose monitor with integrated voice synthesizer --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3273. en:body habitus becomes apparent in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:body habitus becomes apparent in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3274. en:both recessive and dominant inheritance have been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both recessive and dominant inheritance have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3275. en:brain anomalies variable --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:brain anomalies variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3276. en:brain mri abnormalities show improvement with time --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:brain mri abnormalities show improvement with time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3277. en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3278. en:broad-based gait --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:broad-based gait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3279. en:c10orf2 mutations account for approximately 35% of all peo cases --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3280. en:carnitine supplementation can prevent further episodes and declines in cardiac function --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3281. en:carrier rate of 1 in 11 among old order amish --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier rate of 1 in 11 among old order amish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3282. en:cataracts may be subclinical in some patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cataracts may be subclinical in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3283. en:cataracts variably present at birth --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cataracts variably present at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3284. en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3285. en:caused by a defect in bile acid transport --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by a defect in bile acid transport | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3286. en:caused by inheritance of the mutation on the maternal allele (imprinting) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3287. en:central apneic episodes may be fatal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:central apneic episodes may be fatal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3288. en:characteristic facial features become more apparent with age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:characteristic facial features become more apparent with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3289. en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3290. en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3291. en:clinical overlap with dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3292. en:clinical variation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical variation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3293. en:colorectal cancer develops by fourth decade in untreated patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3294. en:conduction defect is progressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:conduction defect is progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3295. en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3296. en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3297. en:date of analysis:tmstp:pt:xxx:qn --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3298. en:date of autopsy:date:pt:^patient:qn --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date of autopsy:date:pt:^patient:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3299. en:death between 2 years of age and young adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death between 2 years of age and young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3300. en:death in childhood may occur due to infection --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood may occur due to infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3301. en:death often in early infancy --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often in early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3302. en:death often secondary to infectious disease --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often secondary to infectious disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3303. en:death secondary to respiratory infection or failure --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death secondary to respiratory infection or failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3304. en:death usually by age 3 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually by age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3305. en:death usually in sixth decade --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in sixth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3306. en:death usually occurs by 12 months of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs by 12 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3307. en:delayed separation of umbilical cord --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:delayed separation of umbilical cord | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3308. en:deletion sizes range from 287kb to 4.4mb --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3309. en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3310. en:disproportionately short limbs often noted at birth --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disproportionately short limbs often noted at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3311. en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3312. en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3313. en:diurnal fluctuation, more apparent in earlier years, later subsides --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3314. en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3315. en:dysmorphic features are mild or variable --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic features are mild or variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3316. en:early death in patients with cloverleaf skull --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death in patients with cloverleaf skull | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3317. en:elevated afp can be seen in other disorders --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:elevated afp can be seen in other disorders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3318. en:enterocolitis tends to remit with age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:enterocolitis tends to remit with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3319. en:episodes triggered by fasting, illness, fever --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes triggered by fasting, illness, fever | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3320. en:estimated carrier frequency in charlevoix-saguenay region is 1/22 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3321. en:estimated incidence of 1 in 17,000 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated incidence of 1 in 17,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3322. en:exacerbation following stress, decreased food intake, or alcohol use --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3323. en:existence as a distinct entity is not confirmed --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:existence as a distinct entity is not confirmed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3324. en:fatal multiorgan failure due to severe inflammatory response in some patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3325. en:fatigue --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatigue | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3326. en:favorable initial response to l-dopa --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable initial response to l-dopa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3327. en:favorable response to a ketogenic diet --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to a ketogenic diet | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3328. en:favorable response to anticholinesterase medication --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to anticholinesterase medication | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3329. en:favorable response to sodium chloride treatment --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to sodium chloride treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3330. en:favorable response to treatment with riboflavin --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to treatment with riboflavin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3331. en:febrile seizures remit by age 5 or 6 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:febrile seizures remit by age 5 or 6 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3332. en:female carriers may develop mild hearing loss as adults --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may develop mild hearing loss as adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3333. en:females may be unaffected or mildly affected --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females may be unaffected or mildly affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3334. en:females tend to have earlier onset --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females tend to have earlier onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3335. en:fever, muscle cramping, and poor feeding remit by age 2 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3336. en:first identified in individuals of cypriot origin --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first identified in individuals of cypriot origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3337. en:flares triggered by viral infection, overexertion, stress --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:flares triggered by viral infection, overexertion, stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3338. en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3339. en:four families have been reported (last curated june 2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four families have been reported (last curated june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3340. en:frequent neonatal sudden death --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequent neonatal sudden death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3341. en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3342. en:generalized dystonia in some cases --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generalized dystonia in some cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3343. en:genetic heterogeneity --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3344. en:genetic heterogeneity (see 266900 for summary) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3345. en:genetic heterogeneity (see 607634) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 607634) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3346. en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3347. en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3348. en:genetic heterogeneity (see, e.g., 600795, 105550) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3349. en:genetic heterogeneity (see, e.g., atfb3, 607554) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3350. en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3351. en:genetic heterogeneity, see (203300) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see (203300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3352. en:genetic heterogeneity, see cild1 (244400) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3353. en:genetic heterogeneity, see ppnad1 (610489) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3354. en:global developmental delay --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:global developmental delay | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3355. en:growth retardation onset in utero --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:growth retardation onset in utero | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3356. en:has been described in patients of caucasus jewish origin --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:has been described in patients of caucasus jewish origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3357. en:hearing loss may be stable or progressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss may be stable or progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3358. en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3359. en:high disease prevalence among french-canadians --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high disease prevalence among french-canadians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3360. en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3361. en:high occurrence of de novo mutations --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high occurrence of de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3362. en:hip replacement in early adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hip replacement in early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3363. en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3364. en:homozygotes have earlier onset and a more severe disorder --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3365. en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3366. en:hyperkeratosis triggered by chronic mechanical irritation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3367. en:incidence approximately 2-3/10,000 newborns --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence approximately 2-3/10,000 newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3368. en:incidence in finland is 1 in 76,000 births --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence in finland is 1 in 76,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3369. en:incidence of 1 in 100,000 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3370. en:incidence of 1 in 150,000 live births in the general population --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3371. en:incidence of 1% in yarmouth county, nova scotia --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3372. en:incidence of 1/100,000 in italy and finland --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1/100,000 in italy and finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3373. en:incidence of 4 per million per year --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 4 per million per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3374. en:increased frequency in ashkenazi jewish population (1/100 are carriers) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3375. en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3376. en:increased frequency in finland (prevalence of 1 in 20,000) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3377. en:increased frequency in individuals of asian descent --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in individuals of asian descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3378. en:increased frequency in the state of bahia, brazil --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the state of bahia, brazil | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3379. en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3380. en:increased morbidity/mortality in affected males --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased morbidity/mortality in affected males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3381. en:increased prevalence in individuals of jewish-iraqi origin --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3382. en:increased prevalence in northern finland (7.3/100,000) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3383. en:increased susceptibility to infections --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3384. en:increased tendency to chromosomal nondisjunction --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased tendency to chromosomal nondisjunction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3385. en:individuals may accumulate more pigment in hair and eyes with age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3386. en:infantile onset (in 1 patient) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infantile onset (in 1 patient) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3387. en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3388. en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3389. en:intolerant of heat --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intolerant of heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3390. en:intracellular accumulation of material may not always be apparent --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intracellular accumulation of material may not always be apparent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3391. en:intrauterine fetal death --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrauterine fetal death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3392. en:jbts shows autosomal dominant inheritance --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:jbts shows autosomal dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3393. en:joint replacement often necessary --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:joint replacement often necessary | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3394. en:laboratory director name:pn:pt:provider:nom --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:laboratory director name:pn:pt:provider:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3395. en:last name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3396. en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3397. en:loss of ambulation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3398. en:loss of independent walking by teenage years (in some) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of independent walking by teenage years (in some) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3399. en:luton and torrance type differentiated based on histologic findings in cartilage --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3400. en:lymphedema resolves by age 3 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lymphedema resolves by age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3401. en:majority of cases are secondary to de novo mutation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases are secondary to de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3402. en:majority of cases have bilateral involvement --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases have bilateral involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3403. en:majority of wws patients die within the first year of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of wws patients die within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3404. en:marked phenotypic variability --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marked phenotypic variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3405. en:may be lethal in infancy if untreated --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be lethal in infancy if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3406. en:may or may not be responsive to pyridoxine (vitamin b6) treatment --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3407. en:mean age of onset 34 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 34 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3408. en:median onset of proteinuria is 18 years (range 10 to 21) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3409. en:mild facial dysmorphism is associated with duplication of the flna gene --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3410. en:milder expression in female heterozygotes --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder expression in female heterozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3411. en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3412. en:more frequent in individuals of asian descent --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more frequent in individuals of asian descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3413. en:most carrier females have mild mental retardation and subtle facial changes --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3414. en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3415. en:most common age of clinical onset ranges from 16 to 33 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3416. en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3417. en:most patients appear unaffected in the first year of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients appear unaffected in the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3418. en:most patients are severely affected --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are severely affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3419. en:most patients die from heart failure --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die from heart failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3420. en:most patients need hip replacement by their mid-thirties --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients need hip replacement by their mid-thirties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3421. en:most patients retain ambulation with aids --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients retain ambulation with aids | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3422. en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3423. en:mousy odor --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mousy odor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3424. en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3425. en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3426. en:neurologic features are variable and not progressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic features are variable and not progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3427. en:neurologic features occur later in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic features occur later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3428. en:neurologic symptoms are progressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic symptoms are progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3429. en:no family history of --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no family history of | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3430. en:no opportunistic infections --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no opportunistic infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3431. en:no phenotype in heterozygotes --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no phenotype in heterozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3432. en:normal growth and development after 1 year of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal growth and development after 1 year of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3433. en:normal neonatal blood phenylalanine has been reported in rare patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3434. en:not responsive to steroid treatment --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not responsive to steroid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3435. en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3436. en:occasional adult onset --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occasional adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3437. en:occasionally low-dose insulin required --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occasionally low-dose insulin required | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3438. en:occurs more frequently in females --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs more frequently in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3439. en:old order amish, african american, and french patients have been described --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:old order amish, african american, and french patients have been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3440. en:one chinese family has been reported (last curated october 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one chinese family has been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3441. en:one consanguineous arab israeli family has been reported (last curated february, 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3442. en:one consanguineous family has been reported (last curated june 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3443. en:one consanguineous pakistani family has been reported (last curated september 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3444. en:one family and 1 unrelated patient have been reported (last curated january 2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3445. en:one family has been reported (last curated may 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3446. en:one family has been reported and no additional clinical features were provided (last curated june 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3447. en:one family reported (as of may 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (as of may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3448. en:one family reported (last curated may 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3449. en:one french family has been reported (as of march 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one french family has been reported (as of march 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3450. en:one japanese patient has been reported (last curated september 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3451. en:one large family has been reported (last curated january 2015) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one large family has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3452. en:one patient has been reported (as of july 2010) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of july 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3453. en:one patient has been reported (last curated december 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3454. en:one patient showed improvement and was thriving at 46 months of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3455. en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3456. en:one report of mother and son (last curated august 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one report of mother and son (last curated august 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3457. en:one such patient has been reported (last curated january 2015) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one such patient has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3458. en:only women have been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only women have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3459. en:onset 3rd to 4th decade of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 3rd to 4th decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3460. en:onset 6 to 18 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 6 to 18 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3461. en:onset about 6 months of age after normal growth and development in the first few months of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3462. en:onset before 10 years of age in all patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before 10 years of age in all patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3463. en:onset before 50 years of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before 50 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3464. en:onset between 13 to 37 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 13 to 37 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3465. en:onset between 2 and 4 years of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 2 and 4 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3466. en:onset between birth and 3 months of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between birth and 3 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3467. en:onset bimodal, ages 16-22 and ages 57-60 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3468. en:onset in adolescence or adulthood has been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence or adulthood has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3469. en:onset in adolescence to early adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence to early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3470. en:onset in childhood (3 to 10 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (3 to 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3471. en:onset in childhood (5 to 10 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (5 to 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3472. en:onset in childhood or early adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3473. en:onset in childhood or teenage years (7 to 16 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3474. en:onset in childhood or young adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3475. en:onset in early infancy, between 2 weeks and 3 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3476. en:onset in infancy up to 3 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy up to 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3477. en:onset in mid-adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in mid-adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3478. en:onset in second and third decades --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second and third decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3479. en:onset in second or third decades --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second or third decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3480. en:onset in the neonatal period (0-38 days) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the neonatal period (0-38 days) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3481. en:onset may be prelingual or in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset may be prelingual or in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3482. en:onset of achalasia in infancy or early childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of achalasia in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3483. en:onset of calf hypotrophy may occur earlier --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of calf hypotrophy may occur earlier | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3484. en:onset of chronic progressive polyneuropathy in late childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3485. en:onset of disease within the first year of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3486. en:onset of gaze palsy at birth --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of gaze palsy at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3487. en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3488. en:onset of muscle weakness in early childhood, usually before age 10 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3489. en:onset of optic atrophy in infancy or early childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of optic atrophy in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3490. en:onset of proteinuria in the second to fourth decades --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of proteinuria in the second to fourth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3491. en:onset of proteinuria in the third to fourth decades --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of proteinuria in the third to fourth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3492. en:onset of renal failure in adulthood (range twenties to fifties) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3493. en:onset of seizures at 2-8 days of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures at 2-8 days of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3494. en:onset of sensory neuropathy in later adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of sensory neuropathy in later adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3495. en:onset of skin manifestations from birth to puberty --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of skin manifestations from birth to puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3496. en:onset of spasticity in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of spasticity in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3497. en:onset of symptoms in early childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3498. en:onset of symptoms in second or third decade (mean 25 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3499. en:onset ranges from early childhood to adulthood (usually before age 15) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3500. en:onset usually in adulthood although childhood onset has been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3501. en:onset usually in childhood (range 17 months to 39 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3502. en:onset usually in first or second decade (mean 10 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first or second decade (mean 10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3503. en:onset usually in infancy or early childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3504. en:onset usually in late adolescence or early adulthood (range 15 to 45 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3505. en:onset usually in the third decade (range 11 to 50 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3506. en:onset within the first decade of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within the first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3507. en:other tumors may also occur --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other tumors may also occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3508. en:overlap with obsessive-compulsive disorder (ocd, 164230) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3509. en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3510. en:patients achieve ambulation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients achieve ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3511. en:patients have normal pituitary function --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients have normal pituitary function | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3512. en:patients may have seizures only, dyskinesia only, or both --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3513. en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3514. en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3515. en:peak age of onset in second decade (range childhood to 76 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3516. en:penetrance of disease is complete between 30 and 40 years of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3517. en:periodontium is less severely affected than in papillon-lefevre syndrome --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3518. en:phenotype may or may not be consistent within a family. --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype may or may not be consistent within a family. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3519. en:phenotypic overlap with desbuquois dysplasia (251450) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3520. en:possible autosomal dominant (165199) and autosomal recessive (258650) forms --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3521. en:preferably treated with iodine supplementation rather than thyroid hormone replacement --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3522. en:premature death may occur --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:premature death may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3523. en:prenatal onset or onset in infancy --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal onset or onset in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3524. en:preponderance of affected females (80%) to males --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:preponderance of affected females (80%) to males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3525. en:present in jewish yemenite population --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:present in jewish yemenite population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3526. en:presentation between 6-18 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation between 6-18 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3527. en:presentation in first year of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3528. en:presenting symptoms in the upper body --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presenting symptoms in the upper body | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3529. en:prevalence in caucasians is 1 in 1,000,000 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3530. en:prevalence of 1 in 100,000 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3531. en:prevalence rates average 10-20% of the general population over age 60 --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3532. en:profound dementia and death usually occurs by age 50 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:profound dementia and death usually occurs by age 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3533. en:prominent psychiatric symptoms --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prominent psychiatric symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3534. en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3535. en:pulsatile headache lasts hours to days --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pulsatile headache lasts hours to days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3536. en:rapidly progressive neonatal onset with early death --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive neonatal onset with early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3537. en:rare disorder --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3538. en:recurrence of symptoms after cholecystectomy --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrence of symptoms after cholecystectomy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3539. en:reference lab test method:type:time reported elsewhere:reference lab test:narrative --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3540. en:repeat tracts may expand as patient ages (somatic instability) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3541. en:resembles pseudo-torch syndrome (251290) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:resembles pseudo-torch syndrome (251290) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3542. en:secondary prevention, avoid smoking, alcohol, and oxidants --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3543. en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3544. en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3545. en:see also autosomal dominant form (128230) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant form (128230) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3546. en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3547. en:see also erythrocytosis 1 (ecyt1, 133100) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3548. en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3549. en:see also mmaa (251100) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also mmaa (251100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3550. en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3551. en:see also the autosomal recessive form (243000) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also the autosomal recessive form (243000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3552. en:see also the lethal neonatal (608836) and infantile (600649) forms --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3553. en:see also the non-herlitz type of jeb (226650), a less severe disorder --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3554. en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3555. en:seizure onset in first months or years of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure onset in first months or years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3556. en:seizures and cognitive involvement are variable findings --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures and cognitive involvement are variable findings | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3557. en:seizures are followed by drowsiness in most cases --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are followed by drowsiness in most cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3558. en:seizures are usually refractory --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are usually refractory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3559. en:seizures occur upon awakening --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures occur upon awakening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3560. en:seizures recur in 33% of patients --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures recur in 33% of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3561. en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3562. en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3563. en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3564. en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3565. en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3566. en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3567. en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3568. en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3569. en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3570. en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3571. en:severe disorder --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3572. en:severe infantile form presents before 6 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe infantile form presents before 6 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3573. en:severity of hematologic disorder decreases with advancing age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severity of hematologic disorder decreases with advancing age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3574. en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3575. en:single lesions in sporadic cases --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:single lesions in sporadic cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3576. en:skeletal and endocrine features have not been fully characterized in all of the patients reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3577. en:skin lesion appear shortly after birth and tend to disappear in young adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3578. en:slight increased risk for malignancy --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slight increased risk for malignancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3579. en:slightly increased female:male ratio (1.4:1 to 2:1) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3580. en:slow or nonprogressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slow or nonprogressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3581. en:slow progression --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slow progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3582. en:some carrier females may manifest mild symptoms --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some carrier females may manifest mild symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3583. en:some heterozygotes may have increased urinary excretion of cystine and may develop stones --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3584. en:some patients can attend special school --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients can attend special school | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3585. en:some patients do not manifest renal disease in the first decade of life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3586. en:some patients have no clinical symptoms and are detected by routine newborn screening --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3587. en:some patients have no manifestations --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have no manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3588. en:some patients may be clinically asymptomatic --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may be clinically asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3589. en:some patients may have isolated myokymia --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have isolated myokymia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3590. en:some patients may show neurologic improvement late in life --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may show neurologic improvement late in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3591. en:some patients present with spasticity, whereas others present with cerebellar ataxia --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3592. en:some patients show onset in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show onset in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3593. en:spontaneous resolution usually after 12 months of age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous resolution usually after 12 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3594. en:spontaneous tumor regression may occur --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous tumor regression may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3595. en:sporadic occurrence is associated with advanced paternal age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3596. en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3597. en:striking intrafamilial variability --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:striking intrafamilial variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3598. en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3599. en:sudden cardiac death frequent in affected families --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden cardiac death frequent in affected families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3600. en:sudden cardiac death in some families --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden cardiac death in some families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3601. en:sudden death --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3602. en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3603. en:survival to 20 years in severe form --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival to 20 years in severe form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3604. en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3605. en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3606. en:symptoms ameliorate with age --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms ameliorate with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3607. en:symptoms begin focally, later segmental or generalized --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms begin focally, later segmental or generalized | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3608. en:symptoms precipitated by exercise and excitement --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by exercise and excitement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3609. en:symptoms relieved by serotonin antagonist (in some patients) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3610. en:symptoms resolve over weeks to months with usually no residual symptoms between attacks --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3611. en:symptoms usually appear in adulthood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually appear in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3612. en:symptoms usually last 30-60 minutes --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually last 30-60 minutes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3613. en:this patient died at age 8 months --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:this patient died at age 8 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3614. en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3615. en:three unrelated families have been reported (last curated november 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3616. en:three unrelated turkish families have been reported (last curated september 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated turkish families have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3617. en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3618. en:treatment with betaine, especially for pyridoxine nonresponders --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3619. en:tremor is aggravated by emotional stress --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tremor is aggravated by emotional stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3620. en:tremors develop after seizures --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tremors develop after seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3621. en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3622. en:two autosomal dominant families have been reported (as of may 2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3623. en:two families have been reported (as of 6/2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of 6/2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3624. en:two loci control synthesis of c4, c4a (120810) and c4b (120820) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3625. en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3626. en:two main phenotypes, metabolic and neurologic --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two main phenotypes, metabolic and neurologic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3627. en:two patients with a wws phenotype have been reported --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients with a wws phenotype have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3628. en:two sibs have been reported (as of august 2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs have been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3629. en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3630. en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3631. en:two unrelated families have been reported (last curated december 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3632. en:two unrelated families have been reported (last curated january 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3633. en:two unrelated families have been reported (last curated june 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3634. en:two unrelated families have been reported (last curated june 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3635. en:two unrelated families have been reported (last curated october 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3636. en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3637. en:two unrelated girls reported (last curated october 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated girls reported (last curated october 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3638. en:two unrelated patients have been reported (as of january 2012) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3639. en:two unrelated patients have been reported (as of june 2011) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3640. en:two unrelated patients have been reported (last curated august 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3641. en:two unrelated patients have been reported (last curated june 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3642. en:two unrelated patients have been reported (last curated october 2013) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3643. en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3644. en:type 3: craniosynostosis, early demise, sporadic --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3645. en:type i has most severe manifestations by age 4-5 years --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i has most severe manifestations by age 4-5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3646. en:up to 50% of patients may have various additional congenital anomalies --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3647. en:upper limb involvement in first decade --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:upper limb involvement in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3648. en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3649. en:usual age of onset in the 20s and 30s --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usual age of onset in the 20s and 30s | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3650. en:usually fatal --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually fatal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3651. en:variable age at onset (range childhood to mid-sixties) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3652. en:variable age at onset (range first to fourth decade) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range first to fourth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3653. en:variable age at onset (range infancy to 30 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range infancy to 30 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3654. en:variable age at onset of seizures --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset of seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3655. en:variable age at onset, mostly in third decade (range teenage years to fourth decade) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3656. en:variable age of onset (childhood to adulthood) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (childhood to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3657. en:variable age of onset (first to third decades) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (first to third decades) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3658. en:variable age of onset (range 4 to 47 years) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range 4 to 47 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3659. en:variable cataract phenotypes within a family --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable cataract phenotypes within a family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3660. en:variable facial dysmorphic features --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable facial dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3661. en:variable frequency (weekly to yearly) --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable frequency (weekly to yearly) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3662. en:variable involvement of hematologic parameters --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable involvement of hematologic parameters | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3663. en:variable penetrance --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3664. en:variable penetrance of these features --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable penetrance of these features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3665. en:variable response to steroid treatment --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable response to steroid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3666. en:variable severity, even within families --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, even within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3667. en:variable severity, some patients have a protracted course with little neurologic involvement --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3668. en:visual and hearing loss are slowly progressive --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visual and hearing loss are slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3669. en:waddling gate --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:waddling gate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3670. en:wide phenotypic variation --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide phenotypic variation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3671. en:worldwide frequency of 1 in 100,000 infants --- r_associated #0: 25 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=25
  3672. en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3673. en:1 patient reported (last curated may 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:1 patient reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3674. en:10% due to paternal deletion --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:10% due to paternal deletion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3675. en:21% of hereditary wilms tumor are bilateral --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:21% of hereditary wilms tumor are bilateral | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3676. en:23 patients from 2 kindreds reported (as of february 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3677. en:94% develop hypertension at 18 years of age or less --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:94% develop hypertension at 18 years of age or less | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3678. en:abnormal transferrin pattern tends to improve with age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:abnormal transferrin pattern tends to improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3679. en:acquired autoimmune disorder --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired autoimmune disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3680. en:acquired sporadic disorder --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired sporadic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3681. en:adult onset (40 to 60 years old) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (40 to 60 years old) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3682. en:adult onset (mean 30 years, range 5-60 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3683. en:adult onset (range 12 to 59 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 12 to 59 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3684. en:adult onset (range 34 to 66 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 34 to 66 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3685. en:adult onset may also occur --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset may also occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3686. en:adults may be asymptomatic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adults may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3687. en:affected females are infertile --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected females are infertile | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3688. en:affected individuals may have learning or behavioral problems during the period when seizures occur --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3689. en:affected individuals remain ambulatory --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals remain ambulatory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3690. en:affected individuals remain ambulatory in old age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals remain ambulatory in old age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3691. en:affected males have normal pubertal development and are fertile --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males have normal pubertal development and are fertile | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3692. en:age at onset 15 to 25 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset 15 to 25 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3693. en:age of onset varies between 18 years and 53 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset varies between 18 years and 53 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3694. en:age:time:pt:^patient:qn:calculated --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age:time:pt:^patient:qn:calculated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3695. en:all cases occur in old order amish, lancaster county, pennsylvania --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3696. en:all reported mutations have occurred de novo (last curated december 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported mutations have occurred de novo (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3697. en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3698. en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3699. en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3700. en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3701. en:allelic disorder to margarita island type of ectodermal dysplasia (225060) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3702. en:allelic disorder to nieman-pick disease type b (607616) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3703. en:allelic disorder to northern epilepsy (610003) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to northern epilepsy (610003) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3704. en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3705. en:allelic disorder to spastic paraplegia-3 (spg3, 182600) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3706. en:allelic disorders with clinical overlap include dss and cmt1b (118200) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3707. en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3708. en:allelic to acrocapitofemoral dysplasia (607778) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3709. en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3710. en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3711. en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3712. en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3713. en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3714. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3715. en:ambulation is usually maintained during adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ambulation is usually maintained during adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3716. en:antibodies can develop after pregnancy or transfusion --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:antibodies can develop after pregnancy or transfusion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3717. en:approximately 10% of als cases are familial --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 10% of als cases are familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3718. en:approximately 12 patients have been reported (as of march 2010) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3719. en:approximately 40% of patients die within newborn period --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 40% of patients die within newborn period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3720. en:approximately one-third of patients become seizure-free with age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately one-third of patients become seizure-free with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3721. en:as of 2009, one family has been reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:as of 2009, one family has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3722. en:associated with increased paternal age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with increased paternal age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3723. en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3724. en:asymptomatic heterozygotes susceptible to lead toxicity --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3725. en:at birth, there is generalized red scaly skin --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:at birth, there is generalized red scaly skin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3726. en:attacks often drug-induced --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks often drug-induced | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3727. en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3728. en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3729. en:autosomal recessive form (240220) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive form (240220) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3730. en:average age of onset 6 months (range birth - 2 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3731. en:based on one patient (last curated february 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on one patient (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3732. en:based on report of 1 japanese family (last curated november 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3733. en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3734. en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3735. en:begins in feet and legs (peroneal distribution) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:begins in feet and legs (peroneal distribution) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3736. en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3737. en:bimodal age of onset --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bimodal age of onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3738. en:bone changes tend to develop after first decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bone changes tend to develop after first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3739. en:cardiac features are observed in ~3% of cases --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac features are observed in ~3% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3740. en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3741. en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3742. en:carrier frequency in finland 1/40 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier frequency in finland 1/40 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3743. en:cause of death usually due to respiratory failure before adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3744. en:cerebellar ataxia shows onset in young adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3745. en:chromosomal hypersensitivity to ionizing radiation and alkylating agents --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3746. en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3747. en:clinical overlap with charcot-marie-tooth disease type 2c (606071) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3748. en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3749. en:clinical variability seen in waardenburg syndrome type 1 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3750. en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3751. en:clubfoot is bilateral in most patients --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clubfoot is bilateral in most patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3752. en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3753. en:considered a normal variant --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered a normal variant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3754. en:contiguous gene deletion syndrome of 5q31 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3755. en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3756. en:date ultrasound:date:pt:^patient:qn --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date ultrasound:date:pt:^patient:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3757. en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3758. en:deafness is presenting symptom --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deafness is presenting symptom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3759. en:death at birth or within first 2 years of life (severe form) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death at birth or within first 2 years of life (severe form) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3760. en:death before age 15 in iia --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death before age 15 in iia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3761. en:death due to respiratory failure or infection --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death due to respiratory failure or infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3762. en:death in childhood is frequent due to respiratory failure --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood is frequent due to respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3763. en:death in childhood often results from respiratory insufficiency --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood often results from respiratory insufficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3764. en:death in early childhood has been reported in some presumed homozygotes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3765. en:death in first-second decade of life secondary to cardio-respiratory compromise --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3766. en:death in utero or as neonate --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero or as neonate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3767. en:death often secondary to pneumonia or congestive heart failure --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3768. en:death usually due to respiratory failure --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually due to respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3769. en:death usually occurs before 5th decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs before 5th decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3770. en:death usually within first weeks of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually within first weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3771. en:death within 6 years after onset --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within 6 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3772. en:death within first year of life in 25% --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within first year of life in 25% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3773. en:decrease in seizure frequency in middle age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:decrease in seizure frequency in middle age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3774. en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3775. en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3776. en:delta-f508 present in 70% of alleles --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:delta-f508 present in 70% of alleles | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3777. en:diagnosed in second or third decade of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosed in second or third decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3778. en:diagnosis in the second decade of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis in the second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3779. en:diagnosis made if 3/7 defects are present --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis made if 3/7 defects are present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3780. en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3781. en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3782. en:dyskinesia may occur in homozygotes (1 reported case) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3783. en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3784. en:dysmorphic facial features are subtle --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysmorphic facial features are subtle | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3785. en:dystonia and seizures may persist after resolution of episodes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3786. en:early death often due to respiratory complications --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death often due to respiratory complications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3787. en:early exhaustion on exertion --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early exhaustion on exertion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3788. en:early lethality --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early lethality | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3789. en:early onset has rarely been reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early onset has rarely been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3790. en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3791. en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3792. en:episodes are triggered by hunger, fatigue, cold, stress --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3793. en:episodes of fatigue or weakness (in some patients) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes of fatigue or weakness (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3794. en:estimated carrier frequency 1/100 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated carrier frequency 1/100 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3795. en:evidence of incomplete penetrance in one family --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:evidence of incomplete penetrance in one family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3796. en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3797. en:fatal outcome if untreated --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal outcome if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3798. en:favorable response to alcohol --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3799. en:favorable response to antibodies against tnf-alpha (tnfa, 191160) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3800. en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3801. en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3802. en:feeding difficulties in infancy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:feeding difficulties in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3803. en:female carriers may have asymptomatic proteinuria or hypercalciuria --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3804. en:female carriers may have mild hearing impairment and/or mild signs of choroideremia --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3805. en:females demonstrate lyonization with corresponding phenotypic variation --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3806. en:females have milder manifestations than males --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females have milder manifestations than males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3807. en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3808. en:first described in acadian population of louisiana --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first described in acadian population of louisiana | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3809. en:food intolerance --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:food intolerance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3810. en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3811. en:four types of cgd with basically identical clinical phenotypes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3812. en:four unrelated families have been reported (last curated february 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3813. en:four unrelated patients have been reported (last curated january 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3814. en:frequency increases with advancing age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency increases with advancing age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3815. en:frequency of attack, monthly - bimonthly --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency of attack, monthly - bimonthly | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3816. en:gait difficulties and beginning of cognitive decline in first decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3817. en:genetic heterogeneity (see 192600) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 192600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3818. en:genetic heterogeneity (see 601680) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 601680) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3819. en:genetic heterogeneity (see cmtdia 606483) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3820. en:genetic heterogeneity (see mks2 603194 and mks3 607361) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see mks2 603194 and mks3 607361) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3821. en:genetic heterogeneity (see pfm1, 168500) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3822. en:genetic heterogeneity (see rieg2, 601499) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3823. en:genetic heterogeneity of waardenburg syndrome type 2 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3824. en:gonadal mosaicism reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gonadal mosaicism reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3825. en:good response to gaba-enhancing medications --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to gaba-enhancing medications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3826. en:hair phenotype present at birth and involves entire scalp region --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3827. en:headaches last hours to days --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:headaches last hours to days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3828. en:hearing loss and hoarseness occur later --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss and hoarseness occur later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3829. en:heterozygotes are usually asymptomatic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes are usually asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3830. en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3831. en:high frequency among french-canadians --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency among french-canadians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3832. en:high incidence among ashkenazi jews --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence among ashkenazi jews | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3833. en:high incidence in sweden and finland --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence in sweden and finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3834. en:high prevalence among individuals of middle eastern or african descent --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3835. en:highly variable age at onset --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3836. en:hypertension is presenting sign --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypertension is presenting sign | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3837. en:immunosuppressive therapy may be beneficial --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:immunosuppressive therapy may be beneficial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3838. en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3839. en:incidence 1 in 20,000 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 20,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3840. en:incidence of 0.51 per million in france --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 0.51 per million in france | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3841. en:incidence of 1 in 320,000 births among non-jewish persons --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3842. en:incidence of 1 in 6,000 males --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 6,000 males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3843. en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3844. en:increased sensitivity to heat --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased sensitivity to heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3845. en:infertility --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infertility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3846. en:juvenile-onset (before 15 years of age) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile-onset (before 15 years of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3847. en:later onset has been rarely reported (up to age 68 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3848. en:later onset is associated with slower progression and lesser severity --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset is associated with slower progression and lesser severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3849. en:less than 50% penetrance in some families --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:less than 50% penetrance in some families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3850. en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3851. en:liver functions return to normal after 3 to 4 months --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver functions return to normal after 3 to 4 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3852. en:liver involvement can range from mild to severe --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver involvement can range from mild to severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3853. en:majority of cases occur in brazilian population --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases occur in brazilian population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3854. en:majority of patients are pyridoxine-responsive --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients are pyridoxine-responsive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3855. en:majority of patients from italy and southwestern united states --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of patients from italy and southwestern united states | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3856. en:majority of wilms tumors are sporadic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of wilms tumors are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3857. en:males are more commonly affected than females --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males are more commonly affected than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3858. en:many cases result from de novo mutations --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:many cases result from de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3859. en:may occur cormorbidly with poland syndrome (173800) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3860. en:mean age at onset 12.5 years (range 2 to 15 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3861. en:mean age at onset for variant cjd is 29 years (before age 45 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3862. en:mean age of onset 14-24 months --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 14-24 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3863. en:melnick-needles syndrome (mns, 309350) is an allelic disorder --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3864. en:mental development worsens after onset of seizures --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mental development worsens after onset of seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3865. en:metabolic decompensation, episodic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:metabolic decompensation, episodic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3866. en:mild involvement of face and arms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild involvement of face and arms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3867. en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3868. en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3869. en:mode of inheritance is uncertain --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mode of inheritance is uncertain | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3870. en:more common in ashkenazi jews --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in ashkenazi jews | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3871. en:more common in females (male:female ratio 4:1) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in females (male:female ratio 4:1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3872. en:more severe in males than in females --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more severe in males than in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3873. en:mortality approximately 20% in first 2 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mortality approximately 20% in first 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3874. en:most affected infants die in the first month of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most affected infants die in the first month of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3875. en:most become wheelchair-bound late in life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most become wheelchair-bound late in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3876. en:most cases are caused by mutation in the phox2b gene --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases are caused by mutation in the phox2b gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3877. en:most have onset in first or second decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most have onset in first or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3878. en:most patients are clinically asymptomatic and show normal development --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are clinically asymptomatic and show normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3879. en:most patients are female --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3880. en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3881. en:mucocutaneous immunodeficiency syndrome may be prominent --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3882. en:mulibrey is an acronym (muscle, liver, brain, and eyes) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3883. en:murcs association --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:murcs association | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3884. en:muscle symptoms precede cardiac symptoms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:muscle symptoms precede cardiac symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3885. en:muscle weakness occurs only in the presence of hyperthyroidism --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3886. en:mutation in rp9 gene in family (607331.0001) likely not pathogenic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3887. en:mutation in the hcrt gene has been identified in 1 patient --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3888. en:neurologic signs onset during adolescence or young adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3889. en:neurologic symptoms may develop decades later --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic symptoms may develop decades later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3890. en:neuromuscular, cardiovascular, and infectious symptoms improve with age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3891. en:no increased fragility of hair --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no increased fragility of hair | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3892. en:no neurologic sequelae --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no neurologic sequelae | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3893. en:no phenotypic manifestations --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no phenotypic manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3894. en:no predisposition to skin tumor development --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no predisposition to skin tumor development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3895. en:nonpenetrance has been observed --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonpenetrance has been observed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3896. en:normal ability to tolerate heat --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal ability to tolerate heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3897. en:normal development between episodes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal development between episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3898. en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3899. en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3900. en:occurs during pregnancy, most often in the third trimester --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs during pregnancy, most often in the third trimester | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3901. en:occurs in full-term newborns --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in full-term newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3902. en:oculomotor apraxia is not always present --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:oculomotor apraxia is not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3903. en:often fatal in utero --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often fatal in utero | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3904. en:older individuals had moderate to severe hearing loss --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:older individuals had moderate to severe hearing loss | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3905. en:one amish family has been reported (last curated july 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one amish family has been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3906. en:one chinese family has been reported (as of august 2011) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one chinese family has been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3907. en:one chinese family with 14 affected individuals has been described (last curated february 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3908. en:one consanguineous moroccan family has been reported (as of january 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3909. en:one family (4 affected members) has been reported (last curated july 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3910. en:one family from punjab, india has been reported (last curated august 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3911. en:one family has been reported (as of curation date may, 2013) onset in infancy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3912. en:one family has been reported (last curated february 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3913. en:one family has been reported (last curated january 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3914. en:one family of french-canadian origin has been reported (last curated august 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3915. en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3916. en:one highly consanguineous family has been reported (last curated may 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one highly consanguineous family has been reported (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3917. en:one likely consanguineous turkish family has been reported (last curated january 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3918. en:one of the 2 most common forms of oca in the world along with oca1 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3919. en:one patient has been reported (last curated february 2015) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3920. en:one patient with limited clinical information has been reported (last curated october 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3921. en:onset 1-70 years of age (95% by early 50's) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3922. en:onset 3 months of age up to 5 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 3 months of age up to 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3923. en:onset 5-30 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 5-30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3924. en:onset at 5-24 months --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 5-24 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3925. en:onset at birth or early infancy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at birth or early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3926. en:onset at birth or in first days or life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at birth or in first days or life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3927. en:onset at day 1 of life has been reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at day 1 of life has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3928. en:onset before adolescence --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3929. en:onset before age 5 years in the absence of instruction --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 5 years in the absence of instruction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3930. en:onset between 1-3 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 1-3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3931. en:onset between 15 and 27 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 15 and 27 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3932. en:onset between 2 to 20 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 2 to 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3933. en:onset between 6 and 9 months after normal early development --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 6 and 9 months after normal early development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3934. en:onset beyond the second year of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset beyond the second year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3935. en:onset birth to 6 months --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset birth to 6 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3936. en:onset birth to early childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset birth to early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3937. en:onset in adolescence --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3938. en:onset in adulthood (third to fourth decade) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adulthood (third to fourth decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3939. en:onset in childhood (range 4 to 12 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range 4 to 12 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3940. en:onset in childhood or adolescence in most patients --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or adolescence in most patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3941. en:onset in childhood, adolescence, and adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood, adolescence, and adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3942. en:onset in feet and legs (peroneal distribution) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in feet and legs (peroneal distribution) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3943. en:onset in first 2 decades (range 6 to 15 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3944. en:onset in first 2 decades of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first 2 decades of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3945. en:onset in first 6 months of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first 6 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3946. en:onset in first hours to days of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first hours to days of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3947. en:onset in first weeks or months of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first weeks or months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3948. en:onset in fourth decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3949. en:onset in infancy or early childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3950. en:onset in males in first to third decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in males in first to third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3951. en:onset in neonatal period or early infancy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in neonatal period or early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3952. en:onset in teens or young adulthood (range 13 to 45 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3953. en:onset in third to fourth decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in third to fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3954. en:onset in young adulthood (range 18 to 23 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3955. en:onset of bone fragility in childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of bone fragility in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3956. en:onset of cataracts in late adolescence --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cataracts in late adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3957. en:onset of choroideremia in second to third decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of choroideremia in second to third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3958. en:onset of fractures in infancy to early childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of fractures in infancy to early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3959. en:onset of hearing loss in adolescence --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3960. en:onset of mental impairment in early childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of mental impairment in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3961. en:onset of neurologic features is variable, even within the same family (range early childhood to adult) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3962. en:onset of neuromuscular symptoms between 6 months and 1 year of age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3963. en:onset of other symptoms in adolescence or early adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3964. en:onset of symptoms 2-4 weeks of age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms 2-4 weeks of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3965. en:onset of symptoms in the fourth to sixth decade of life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3966. en:onset often begins in childhood or adolescence --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset often begins in childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3967. en:onset usually at 2 to 6 months of age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually at 2 to 6 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3968. en:ophthalmologic signs onset in first to sixth decade --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3969. en:oral contraceptives may also cause symptoms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:oral contraceptives may also cause symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3970. en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3971. en:overall course less severe compared to patients with cfh (134370) mutations --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3972. en:partially responsive to laser treatment --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:partially responsive to laser treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3973. en:paternal anticipation bias --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:paternal anticipation bias | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3974. en:pathogenic alleles contain greater than 41 repeats --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3975. en:patients do not exhibit ophthalmoplegia --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients do not exhibit ophthalmoplegia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3976. en:patients may become totally dependent for all activities of daily living --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may become totally dependent for all activities of daily living | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3977. en:patients often nonambulatory by the mid-twenties --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often nonambulatory by the mid-twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3978. en:patients older than 60 years have severe degenerative arthritis in the feet --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3979. en:pavm more frequent in hht1 than hht2 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pavm more frequent in hht1 than hht2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3980. en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3981. en:perinatal lethal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:perinatal lethal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3982. en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3983. en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3984. en:phenotypic overlap with cytochrome c oxidase deficiency (220110) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3985. en:phenotypic similarities to leigh syndrome (256000) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3986. en:phenotypic variability --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3987. en:possible x-linked recessive inheritance --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible x-linked recessive inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3988. en:possibly x-linked recessive inheritance --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possibly x-linked recessive inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3989. en:precipitated by infection, fasting, or intercurrent illness --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3990. en:precipitated by mechanical compression or pressure on nerve --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3991. en:presents at a later stage than sporadic wilms tumor --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents at a later stage than sporadic wilms tumor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3992. en:presents at birth or early childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents at birth or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3993. en:prevalence 1 in 8000 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence 1 in 8000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3994. en:prevalence of 1 in 2,833 in zimbabwe --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3995. en:prevalence of 19 in 1,000,000 in sweden --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3996. en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3997. en:prevalence of sleep terrors about 3% in children --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of sleep terrors about 3% in children | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3998. en:prevalent in bulgarian gypsies --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in bulgarian gypsies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  3999. en:primary teeth affected greater than secondary teeth --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:primary teeth affected greater than secondary teeth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4000. en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4001. en:progresses to involve upper limbs --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progresses to involve upper limbs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4002. en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4003. en:progression of the disorder is precipitated by viral symptoms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4004. en:progression to profound hearing loss affecting all frequencies --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression to profound hearing loss affecting all frequencies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4005. en:progressive disorder --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4006. en:progressive disorder, usually with rapid, relentless course --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disorder, usually with rapid, relentless course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4007. en:progressive disorder, with older patients exhibiting more severe symptoms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4008. en:progressive, with full manifestations at puberty --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive, with full manifestations at puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4009. en:pyridoxine responsive individuals often have milder manifestations than those not responsive --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4010. en:quinidine therapy is effective --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:quinidine therapy is effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4011. en:rapidly progressive --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4012. en:rare survival to teens --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare survival to teens | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4013. en:recurrent acute episodes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent acute episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4014. en:reduced penetrance (approximately 54%) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance (approximately 54%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4015. en:regional, racial, and ethnic clustering has been noted --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:regional, racial, and ethnic clustering has been noted | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4016. en:relief is achieved by cooling or by elevating the extremities --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4017. en:renal anomalies are not always present --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:renal anomalies are not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4018. en:reported in 1 family (last curated may 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in 1 family (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4019. en:reported in individuals of french canadian origin --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported in individuals of french canadian origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4020. en:respiratory distress may be precipitated by viral respiratory infection --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4021. en:responsive to vitamin b12 therapy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:responsive to vitamin b12 therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4022. en:results in severe motor disability and loss of independent ambulation --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:results in severe motor disability and loss of independent ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4023. en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4024. en:right side affected greater than left side --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:right side affected greater than left side | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4025. en:secondary tumors develop within the skin lesions --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:secondary tumors develop within the skin lesions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4026. en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4027. en:see also an adult-onset form (213600) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also an adult-onset form (213600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4028. en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4029. en:see also chromosome 2q32-q33 deletion syndrome (612313) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4030. en:see also gaucher disease type iii (231000), which is much less severe --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4031. en:see also pachyonychia congenita, type 3 (pc1, 167200) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4032. en:see also pseudopseudohypoparathyroidism (612463) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4033. en:see cmt4a (214400) for autosomal recessive demyelinating forms --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4034. en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4035. en:seizures are poorly responsive to treatment --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are poorly responsive to treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4036. en:seizures may be refractory --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may be refractory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4037. en:serum triglycerides decrease with age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:serum triglycerides decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4038. en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4039. en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4040. en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4041. en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4042. en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4043. en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4044. en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4045. en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4046. en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4047. en:severe hearing loss by age 50 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe hearing loss by age 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4048. en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4049. en:severely affected individuals may carry 2 mutated alleles --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4050. en:severity of phenotype is not related to residual enzyme activity --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4051. en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4052. en:significant phenotypic variability --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:significant phenotypic variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4053. en:simple febrile seizures usually remit by age 6 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:simple febrile seizures usually remit by age 6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4054. en:skin lesions improve in the summer --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions improve in the summer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4055. en:slow progression without marked disability --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slow progression without marked disability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4056. en:slowly progressive disease --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slowly progressive disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4057. en:somatic mutations occur in adrenal tumor tissue (601639.0001) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4058. en:some familial occurrence, most de novo aberrations --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some familial occurrence, most de novo aberrations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4059. en:some features may be variable --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features may be variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4060. en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4061. en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4062. en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4063. en:some patients have later onset of the disorder as young adults --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have later onset of the disorder as young adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4064. en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4065. en:some patients may have normal psychomotor development --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have normal psychomotor development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4066. en:some patients may live to adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may live to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4067. en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4068. en:some patients show infantile onset --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show infantile onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4069. en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4070. en:stage iii, pseudostationary period (onset 2-10 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4071. en:stillbirth --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stillbirth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4072. en:successful treatment with oral isotretinoin --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:successful treatment with oral isotretinoin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4073. en:survival to advanced age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival to advanced age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4074. en:symptom onset ranges from infancy to adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptom onset ranges from infancy to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4075. en:symptoms improve during the summer --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms improve during the summer | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4076. en:symptoms precipitated by sudden movement, stress, exertion, fatigue --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4077. en:symptoms typically begin in childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms typically begin in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4078. en:symptoms vary from asymptomatic patients to patients with metabolic acidosis --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4079. en:t-cell lymphopenia is more severe early in life --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:t-cell lymphopenia is more severe early in life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4080. en:the frequency is estimated at 1/20,000 to 1/50,000 births --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4081. en:there are several subtypes --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:there are several subtypes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4082. en:this patient died at age 2 years --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:this patient died at age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4083. en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4084. en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4085. en:three families have been reported (as of september 2011) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4086. en:three families have been reported (last curated august 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (last curated august 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4087. en:three patients have been reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4088. en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4089. en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4090. en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4091. en:three unrelated boys have been reported (as of july 2011) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated boys have been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4092. en:three unrelated patients have been reported (last curated september 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4093. en:treatment with folinic acid offers some benefit for anemia and seizure control --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4094. en:treatment with levodopa is not effective --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with levodopa is not effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4095. en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4096. en:two loci described - eec1 (129900) and eec3 (604292) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4097. en:two main presentations --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two main presentations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4098. en:two patients have been reported (as of august 2011) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients have been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4099. en:two patients in one ashkenzai jewish family described (last curated june 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4100. en:two patients required liver transplantation --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients required liver transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4101. en:two sibs died before 2 years of age --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs died before 2 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4102. en:two subtypes noninflammatory type a and inflammatory type b --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4103. en:two subtypes, episodic (85% of patients) and chronic (15%) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4104. en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4105. en:two unrelated chinese families have been reported (last curated february 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4106. en:two unrelated families have been reported (last curated september 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4107. en:two unrelated families have been reported (last curated september 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4108. en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4109. en:two unrelated patients have been reported --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4110. en:two unrelated patients have been reported (last curated april 2013) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4111. en:two unrelated patients have been reported (last curated april 2014) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4112. en:two unrelated patients have been reported (last curated december 2010) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4113. en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4114. en:two unrelated patients with confirmed mutations have been reported (as of january 2012) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4115. en:type 2n is characterized by decreased binding affinity for factor viii --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4116. en:type ii patients are usually japanese and have significant aprt activity (10-25%) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4117. en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4118. en:typical onset in adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:typical onset in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4119. en:ultrasound detection in second trimester of pregnancy --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ultrasound detection in second trimester of pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4120. en:unusual skill with jigsaw puzzle --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:unusual skill with jigsaw puzzle | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4121. en:usual onset before age 6 years and death by age 20 --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usual onset before age 6 years and death by age 20 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4122. en:usually a sporadic disorder --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually a sporadic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4123. en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4124. en:variable age at onset (childhood to adult) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4125. en:variable age at onset (range 15 to 60 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 15 to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4126. en:variable age at onset (range birth to 60 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range birth to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4127. en:variable age at onset (range first to third decade) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range first to third decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4128. en:variable age at onset from childhood to adulthood --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset from childhood to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4129. en:variable age of onset (range first to third decade) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range first to third decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4130. en:variable clinical phenotype --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable clinical phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4131. en:variable frequency (2 per day up to 1 per month) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable frequency (2 per day up to 1 per month) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4132. en:variable number of nails involved --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable number of nails involved | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4133. en:variable phenotype within families --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype within families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4134. en:variable severity of phenotype and other features may be present --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity of phenotype and other features may be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4135. en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4136. en:waddling gait, often presenting sign in second year --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:waddling gait, often presenting sign in second year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4137. en:warm weather and alcohol are alleviating factors --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:warm weather and alcohol are alleviating factors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4138. en:wide clinical variability --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide clinical variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4139. en:wide range of onset from childhood to adult (10 to 50 years) --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4140. en:wide range of severity between affected members of the same family --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wide range of severity between affected members of the same family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4141. en:women are more often affected --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:women are more often affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4142. en:women may be mildly affected --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:women may be mildly affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4143. en:x-linked recessive cytochrome b-negative cgd --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4144. en:xy karyotype --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:xy karyotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4145. rétinite pigmentaire et retard mental --- r_associated #0: 24 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire et retard mental | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=24
  4146. en:(2) intermittent --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(2) intermittent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4147. en:(3) intermediate --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(3) intermediate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4148. en:1 in 17,000 in china --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:1 in 17,000 in china | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4149. en:12% due to epimutation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:12% due to epimutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4150. en:25% due to mutations in ube3a (601623) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:25% due to mutations in ube3a (601623) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4151. en:2:1 female preponderance --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:2:1 female preponderance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4152. en:a second family had mild intellectual disability --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a second family had mild intellectual disability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4153. en:a subset of patients may have congenital abnormalities of the ocular anterior segment --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4154. en:a wnt3 mutation has been identified in 1 affected family --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4155. en:about 10% of patients have a severe early onset in the first months of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4156. en:about 8% of female mutation carriers develop dilated cardiomyopathy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4157. en:about half of patients become wheelchair bound after long duration --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about half of patients become wheelchair bound after long duration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4158. en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4159. en:acanthosis nigricans fades during adolescence and reappears in pregnancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4160. en:accounts for <2% of patients with alzheimer's disease --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4161. en:acetazolamide may benefit attacks of vertigo --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acetazolamide may benefit attacks of vertigo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4162. en:adult onset (45 to 76 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (45 to 76 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4163. en:adult onset (mid-forties) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mid-forties) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4164. en:adult onset (range 45 to 70 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (range 45 to 70 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4165. en:adult-onset in third to fourth decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult-onset in third to fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4166. en:affected males who survive are secondary to new mutations --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males who survive are secondary to new mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4167. en:affected, mild - 50-150 repeats --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected, mild - 50-150 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4168. en:age at onset 3 to 23 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset 3 to 23 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4169. en:age at onset most often in childhood (first decade) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset most often in childhood (first decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4170. en:age at onset ranges from neonatal to adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset ranges from neonatal to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4171. en:age of onset 36 to 55 years (mean 47) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 36 to 55 years (mean 47) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4172. en:age of onset 5 to 22 years (mean 6.9) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4173. en:age of onset ranges from neonate to adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset ranges from neonate to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4174. en:age:time:pt:^egg donor:qn --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age:time:pt:^egg donor:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4175. en:aggressive malignancies --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:aggressive malignancies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4176. en:alcohol may alleviate symptoms --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alcohol may alleviate symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4177. en:allelic disorder to cln8 (600143) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to cln8 (600143) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4178. en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4179. en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4180. en:allelic disorder to juvenile nephronophthisis-1 (256100) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4181. en:allelic disorder to limb-mammary syndrome (lms, 603543) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4182. en:allelic disorder to paramyotonia congenita (168300) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4183. en:allelic disorder to parkinson disease-1 (park1, 168601) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4184. en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4185. en:allelic to dyggve-melchior-clausen disease (223800) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4186. en:allelic to early-onset familial alzheimer disease (ad1, 104300) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4187. en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4188. en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4189. en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4190. en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4191. en:allelic with cone-rod dystrophy 10 (610283) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4192. en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4193. en:anemia may show onset in infancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anemia may show onset in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4194. en:association between hla class ii alleles and presence of autoantibodies --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4195. en:aura may occur --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:aura may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4196. en:autosomal recessive cases have been reported --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cases have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4197. en:autosomal recessive cytochrome b-positive cgd, type i (233700) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4198. en:autosomal recessive inheritance can occur --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance can occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4199. en:average age at death is 37 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age at death is 37 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4200. en:average age of onset 57 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average age of onset 57 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4201. en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4202. en:based on 2 unrelated chinese families (last curated july 2014). --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4203. en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4204. en:based on report of 2 siblings and 1 patient (last curated december 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4205. en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4206. en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4207. en:cardiac arrest and sudden death may occur, even in early childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4208. en:cardiac involvement occurs between 5 and 12 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4209. en:carrier females may have mild features --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may have mild features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4210. en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4211. en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4212. en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4213. en:clinical onset within first 2 years of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical onset within first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4214. en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4215. en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4216. en:complementation group b (represented by single atypical patient) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complementation group b (represented by single atypical patient) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4217. en:complete penetrance but extreme variability of phenotypic expression --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4218. en:complete recovery upon treatment of hyperthyroidism --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4219. en:comprises several subtypes, including --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:comprises several subtypes, including | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4220. en:cone-shaped epiphyses usually not present before age 2 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4221. en:considered to be a variant of gaucher disease type iii (231000) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4222. en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4223. en:contractures most severe by midadolescence --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contractures most severe by midadolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4224. en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4225. en:de novo mutation identified in some patients --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:de novo mutation identified in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4226. en:death in infancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4227. en:death in infancy in majority of patients --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy in majority of patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4228. en:death usually within first 2 years of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually within first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4229. en:death within 12 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within 12 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4230. en:decreased fertility --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:decreased fertility | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4231. en:described in 3 unrelated infants (last curated january 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4232. en:described in 6 japanese families --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in 6 japanese families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4233. en:distinct disorder from galactosemia (230400) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from galactosemia (230400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4234. en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4235. en:distinct from pili annulati (180600) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct from pili annulati (180600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4236. en:diurnal fluctuation of symptoms --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diurnal fluctuation of symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4237. en:early age of onset --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early age of onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4238. en:early death in early adulthood often associated with diverticulitis and intestinal perforation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4239. en:early death, usually before age 2 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death, usually before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4240. en:end-stage renal failure in first decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:end-stage renal failure in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4241. en:endocrine abnormalities confined to kidney --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:endocrine abnormalities confined to kidney | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4242. en:epilepsy with grand mal seizures on awakening (egma, 607628) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4243. en:episodes are triggered by fatigue, illness, or strenuous exercise --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4244. en:episodic metabolic decompensation usually associated with illness --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodic metabolic decompensation usually associated with illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4245. en:extreme clinical heterogeneity --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:extreme clinical heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4246. en:facial dysmorphic features may not be present and may become less apparent in adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4247. en:fatal without bone marrow transplantation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal without bone marrow transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4248. en:favorable response to clonazepam --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to clonazepam | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4249. en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4250. en:female predominance (4:1) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female predominance (4:1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4251. en:female to male ratio 5:1 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female to male ratio 5:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4252. en:five patients have been reported (as of 8/2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five patients have been reported (as of 8/2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4253. en:founder effect in turkish families --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:founder effect in turkish families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4254. en:four cases have been reported, all female --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four cases have been reported, all female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4255. en:four patients have been reported (as of december 2009) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients have been reported (as of december 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4256. en:four patients have been reported (as of july 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients have been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4257. en:frequency of attacks may decrease with age or during pregnancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4258. en:gastrointestinal anomalies are not always present --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gastrointestinal anomalies are not always present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4259. en:genetic anticipation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic anticipation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4260. en:genetic anticipation occurs --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic anticipation occurs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4261. en:genetic heterogeneity (see 125800) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 125800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4262. en:genetic heterogeneity (see 209850) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 209850) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4263. en:genetic heterogeneity (see 214300) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 214300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4264. en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4265. en:genetic heterogeneity (see bscl2, 269700) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4266. en:genetic heterogeneity (see cmt2a 118210) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4267. en:genetic heterogeneity (see cmt4b2, 604563) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4268. en:genetic heterogeneity, see apmr1 (203650) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4269. en:genetic heterogeneity, see ekd1 (128200) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4270. en:genetic heterogeneity, see sca1 (164400) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4271. en:gonadal mosaicism may occur --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gonadal mosaicism may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4272. en:good response to fibrinolytic inhibitors --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to fibrinolytic inhibitors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4273. en:good response to l-dopa initially --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to l-dopa initially | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4274. en:greater expression in females --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:greater expression in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4275. en:group c is relatively benign --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:group c is relatively benign | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4276. en:hair loss begins in first years of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair loss begins in first years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4277. en:half of cases show retarded head circumference equal to height retardation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4278. en:health data repository:id:pt:repository:nom --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:health data repository:id:pt:repository:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4279. en:hearing loss and ocular findings are variable --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss and ocular findings are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4280. en:hearing loss typically begins between 3 and 4 years of age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4281. en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4282. en:heterozygous carriers have an increased risk of metabolic dysfunction --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4283. en:hhs is a more severe variant, often resulting in death in childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4284. en:high frequency in southern india (7% of all epilepsies) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4285. en:high incidence of diabetes mellitus noted in opll patients --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4286. en:high risk of death in infancy due to cardiac failure --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high risk of death in infancy due to cardiac failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4287. en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4288. en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4289. en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4290. en:incidence 1 in 300,000 in japan --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 300,000 in japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4291. en:incidence is less than 1 in 70,000 births --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence is less than 1 in 70,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4292. en:incidence of 1 in 40,000 infants worldwide --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4293. en:incidence ranges from 1 in 238,095 to 1 in 300,000 births --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4294. en:incomplete penetrance (as low as 30% in some cases) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4295. en:incomplete penetrance in females --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4296. en:increased prevalence among the finnish --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence among the finnish | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4297. en:increased prevalence in the french-canadian population --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence in the french-canadian population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4298. en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4299. en:individuals develop ability to stand and walk --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:individuals develop ability to stand and walk | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4300. en:infants are stillborn or die before age 1 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:infants are stillborn or die before age 1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4301. en:intellectual disability is variable --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intellectual disability is variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4302. en:intrafamilial variation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4303. en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4304. en:laryngeal edema can result in asphyxiation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:laryngeal edema can result in asphyxiation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4305. en:late infantile form has onset between 19 months and 4 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:late infantile form has onset between 19 months and 4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4306. en:later onset with a milder phenotype may also occur --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset with a milder phenotype may also occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4307. en:length of time post dose:time:point in time:^patient:quantitative --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4308. en:lifetime risk of breast cancer in mutation carriers is 80 to 90% --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4309. en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4310. en:limited clinical information provided on patients with bbs7 mutations --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4311. en:loss of independent ambulation due to muscle weakness in adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4312. en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4313. en:major fetal plasma protein produced by yolk sac and liver --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4314. en:majority of cases are sporadic, some autosomal dominant families have been described --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4315. en:male predominance --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male predominance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4316. en:males are more severely affected than females --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males are more severely affected than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4317. en:males died in neonatal period --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males died in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4318. en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4319. en:massive aortic aneurysm can cause airway compression in affected infants --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4320. en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4321. en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4322. en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4323. en:may be x-linked --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be x-linked | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4324. en:may result in early death --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may result in early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4325. en:mean age of diagnosis is 40 years (range 11 to 79 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4326. en:median age of diagnosis - 15 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of diagnosis - 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4327. en:median age of onset of pancytopenia - 10 years (range 1-32 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4328. en:median life expectancy, 13.4 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:median life expectancy, 13.4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4329. en:mliii is a heterogeneous disorder --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mliii is a heterogeneous disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4330. en:more common in males --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4331. en:more common in men (9:1 male:female ratio) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in men (9:1 male:female ratio) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4332. en:more common in women --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more common in women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4333. en:most (80 to 90%) of cases result from deletions of the sts gene --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4334. en:most affected patients die in childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most affected patients die in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4335. en:most children become wheelchair-bound --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most children become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4336. en:most common episodic ataxia syndrome --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common episodic ataxia syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4337. en:most common inherited giant platelet disorder --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common inherited giant platelet disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4338. en:most common muscle disease of older persons --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common muscle disease of older persons | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4339. en:most patients are from finland --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are from finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4340. en:most patients have no bleeding abnormalities --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have no bleeding abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4341. en:most patients need assistance walking or are wheelchair-bound --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4342. en:most patients require liver transplantation within the first year of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients require liver transplantation within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4343. en:most reported cases come from the island of mauritius or nearby islands --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4344. en:most severe form of gaucher disease --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most severe form of gaucher disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4345. en:mother had rubella infection during pregnancy with daughter --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mother had rubella infection during pregnancy with daughter | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4346. en:motor neuropathy more prominent than sensory neuropathy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4347. en:movements worsened by anxiety --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:movements worsened by anxiety | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4348. en:mutation found in 1 puerto rican family (last curated august 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4349. en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4350. en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4351. en:n-myc oncogene (164840) amplification is associated with poor prognosis --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4352. en:nails appear normal at birth, with dystrophic changes developing within the first decade of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4353. en:narcolepsy and deafness are the first symptoms --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:narcolepsy and deafness are the first symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4354. en:neurologic deterioration is severe after age 2 to 2.5 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4355. en:neurologic dysfunction is infrequent and associated with delayed diagnosis --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4356. en:neurologic signs are present in the neonatal period only --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic signs are present in the neonatal period only | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4357. en:neurologic symptoms may occur after trauma --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic symptoms may occur after trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4358. en:nine patients have been reported in detail (as of 14 june 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4359. en:no abnormalities of skin, hair, teeth, or bones --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4360. en:no clinical description given for 1 reported patient (last curated december 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4361. en:no clinical manifestations were noted (incidental laboratory finding) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4362. en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4363. en:normal alleles contain 6 to 28 repeats --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles contain 6 to 28 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4364. en:not all nails are affected in some patients --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not all nails are affected in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4365. en:not all patients have skeletal muscle symptoms or mental retardation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4366. en:occurs in about 1 in 10,000 births --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in about 1 in 10,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4367. en:occurs in the absence of trauma --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in the absence of trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4368. en:occurs in ~3% pregnancies in western populations --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in ~3% pregnancies in western populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4369. en:occurs most often in developing countries in tropical regions --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs most often in developing countries in tropical regions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4370. en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4371. en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4372. en:one 3-generation korean family reported (as of january 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 3-generation korean family reported (as of january 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4373. en:one 4-generation chinese family has been reported (as of 04/2010) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4374. en:one consanguineous family has been reported (last curated may 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4375. en:one consanguineous pakistani family has been reported (last curated november 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4376. en:one consanguineous pakistani has been reported (last curated august 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4377. en:one consanguineous saudi family has been reported (last curated october 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4378. en:one family and an unrelated patient have been reported (last curated july 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4379. en:one family has been reported (as of april 2012) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of april 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4380. en:one family has been reported (as of july 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4381. en:one family of mali origin has been reported (last curated january 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4382. en:one family reported (last curated november 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated november 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4383. en:one family with 2 patients has been reported --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 2 patients has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4384. en:one family with 2 sisters have been reported (as of march 2010) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4385. en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4386. en:one of the 2 most common forms of albinism in the world, along with oca2 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4387. en:one patient had onset at age 4 months after normal development --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient had onset at age 4 months after normal development | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4388. en:one patient has been reported (as of may 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of may 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4389. en:one patient has been reported (as of sept 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of sept 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4390. en:one patient has been reported (last curated january 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated january 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4391. en:one patient has been reported (last curated june 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4392. en:one turkish girl has been reported (last curated april 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4393. en:only apparent in patients taking eculizumab --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only apparent in patients taking eculizumab | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4394. en:onset 13-15 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 13-15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4395. en:onset 50 to 65 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 50 to 65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4396. en:onset 6 to 30 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 6 to 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4397. en:onset 6-13 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 6-13 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4398. en:onset 8-20 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 8-20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4399. en:onset <30 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset <30 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4400. en:onset age 15-25 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset age 15-25 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4401. en:onset age 2 to 7 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset age 2 to 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4402. en:onset at 4 to 10 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 4 to 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4403. en:onset at age 5 to 15 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at age 5 to 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4404. en:onset at birth or in first months of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at birth or in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4405. en:onset before age 2 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4406. en:onset before age 20 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4407. en:onset before age 5 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4408. en:onset between 18 and 65 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 18 and 65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4409. en:onset between age 4 to 7 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between age 4 to 7 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4410. en:onset by 3 years of age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset by 3 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4411. en:onset early in first decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset early in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4412. en:onset in adolescence or young adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in adolescence or young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4413. en:onset in childhood or adolescence --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4414. en:onset in childhood or as young adult --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or as young adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4415. en:onset in first months of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4416. en:onset in fourth to fifth decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fourth to fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4417. en:onset in infancy after normal birth and neonatal period --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy after normal birth and neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4418. en:onset in infancy or late childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4419. en:onset in late twenties --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4420. en:onset in lower limbs --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in lower limbs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4421. en:onset in teenage or young adult years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teenage or young adult years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4422. en:onset late childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4423. en:onset of alopecia in infancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of alopecia in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4424. en:onset of arthritis in early childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of arthritis in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4425. en:onset of cough in early adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cough in early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4426. en:onset of disease before 7 years of age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease before 7 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4427. en:onset of encephalopathy between ages 2 and 3 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4428. en:onset of end-stage renal disease 15 to 20 years after onset --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4429. en:onset of fractures 4-18 months of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of fractures 4-18 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4430. en:onset of hearing loss in childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4431. en:onset of hemolytic anemia shortly after birth --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hemolytic anemia shortly after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4432. en:onset of hypoglycemia and hyperinsulinism in the neonatal period --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4433. en:onset of malignancy can occur throughout life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of malignancy can occur throughout life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4434. en:onset of myoclonus later in childhood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of myoclonus later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4435. en:onset of parkinsonism in first decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of parkinsonism in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4436. en:onset of seizures around 7 to 12 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures around 7 to 12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4437. en:onset of seizures between 9 and 12 months of age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures between 9 and 12 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4438. en:onset of slowly progressive spastic paraplegia in first or second decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4439. en:onset of symptoms 2-12 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms 2-12 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4440. en:onset of symptoms at 2-4 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms at 2-4 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4441. en:onset of symptoms between ages 3-8 years of age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms between ages 3-8 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4442. en:onset of symptoms in second or third decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in second or third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4443. en:onset of symptoms usually in adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms usually in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4444. en:onset ranges from 2 days to 7 months (most at 2-3 months) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4445. en:onset ranges from childhood to adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from childhood to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4446. en:onset usually before age 40 years (range 15 to 55) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4447. en:onset usually in adolescence --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4448. en:onset usually in first to third decade of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first to third decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4449. en:onset usually in infancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4450. en:onset usually in late infancy or childhood (1 to 6 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4451. en:onset usually in the neonatal period although later onset has been reported --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4452. en:onset usually in third decade of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in third decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4453. en:onset usually in third or fourth decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in third or fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4454. en:onset usually within first weeks of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually within first weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4455. en:onset within first 6 months of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within first 6 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4456. en:pain most commonly affects the trunk, extremities, pelvic region, buttocks --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4457. en:pathogenic alleles contain 75-11,000 repeats --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4458. en:patients exhibit no signs of ocular or cutaneous albinism --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4459. en:patients may have benign course until late adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may have benign course until late adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4460. en:patients often become wheelchair-bound 3 to 4 decades after onset --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4461. en:patients walk on tips of toes with dorsal foot deviated laterally --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4462. en:patients with adult onset present with psychiatric features --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with adult onset present with psychiatric features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4463. en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4464. en:patients with total c4 deficiency are homozygous for double null c4 haplotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4465. en:pectus carinatum present in obligate carrier mothers --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pectus carinatum present in obligate carrier mothers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4466. en:peripheral neuropathy occurs in adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:peripheral neuropathy occurs in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4467. en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4468. en:phenotype is worsened by cold temperature --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype is worsened by cold temperature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4469. en:phenotypic overlap with parkinson disease --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with parkinson disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4470. en:phenotypic variation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4471. en:physical features are apparent at birth --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:physical features are apparent at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4472. en:pigment does not develop with age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pigment does not develop with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4473. en:poland syndrome can be associated with moebius syndrome (157900) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4474. en:poor response to acetylcholinesterase inhibitors or cholinergic agents --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4475. en:prelingual onset in males --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prelingual onset in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4476. en:prenatal diagnosis available --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal diagnosis available | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4477. en:prenatal history of maternal diabetes in 35% of cases --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4478. en:prenatal or perinatal lethality in hemizygous males --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4479. en:presentation after 18 months --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation after 18 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4480. en:prevalence 1-2% in northern european populations --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence 1-2% in northern european populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4481. en:prevalence in norway is 1 in 80,000 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in norway is 1 in 80,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4482. en:prevalence is estimated to be 1 in 1,100,000 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4483. en:prevalence of 1 in 10,000 african-americans --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 10,000 african-americans | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4484. en:prevalence of sleep terrors less than 1% in adults --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4485. en:prevalent among patients of asian descent, particularly japanese --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4486. en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4487. en:progression more frequent in men than women --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression more frequent in men than women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4488. en:progression of phenotype with age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progression of phenotype with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4489. en:progressive renal disorder --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive renal disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4490. en:pseudomembrane formation triggered by injury, infection, irritation, surgery --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4491. en:radioresistant dna synthesis --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:radioresistant dna synthesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4492. en:rapid progression to disability --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapid progression to disability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4493. en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4494. en:recurrence is possible --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrence is possible | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4495. en:reduced fetal movement --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced fetal movement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4496. en:reduced penetrance (89%) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reduced penetrance (89%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4497. en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4498. en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4499. en:renal failure in second or third decade --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:renal failure in second or third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4500. en:response to acetazolamide --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:response to acetazolamide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4501. en:risk of affected offspring in paternal translocation carrier - 0-7% --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4502. en:risk of sudden death with exertion --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of sudden death with exertion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4503. en:scalp hair quality improves during pregnancy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:scalp hair quality improves during pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4504. en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4505. en:see 177850 for description of heterozygous phenotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 177850 for description of heterozygous phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4506. en:see 607731 for an autosomal recessive form --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 607731 for an autosomal recessive form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4507. en:see 608358 for an autosomal dominant form --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see 608358 for an autosomal dominant form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4508. en:see also autosomal dominant sick sinus syndrome (163800) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4509. en:see also autosomal recessive form (255700), which is more common and more severe --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4510. en:see also autosomal recessive form (612304) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive form (612304) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4511. en:see also autosomal recessive sick sinus syndrome (sss1, 608567) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4512. en:see also congenital stiff person syndrome (149400) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also congenital stiff person syndrome (149400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4513. en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4514. en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4515. en:see also hmn2b (608634) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also hmn2b (608634) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4516. en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4517. en:see also pseudohypoparathyroidism type ia (php1a, 103580) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4518. en:see also simplex eb with pyloric atresia (612138) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4519. en:see entry 104300 for general information on alzheimer disease --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see entry 104300 for general information on alzheimer disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4520. en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4521. en:seizure onset at a mean of 14 months (range 6 to 36 months) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4522. en:seizures are often refractory --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are often refractory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4523. en:seizures are refractory to treatment --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are refractory to treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4524. en:seizures are sensitive to hyperventilation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are sensitive to hyperventilation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4525. en:seizures last about 30 seconds to 3 minutes --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures last about 30 seconds to 3 minutes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4526. en:seizures may persist into adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may persist into adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4527. en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4528. en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4529. en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4530. en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4531. en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4532. en:seventy percent of cases have associated anomalies --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seventy percent of cases have associated anomalies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4533. en:severe form with onset at 3 to 4 months of age and severe developmental delay --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4534. en:severe phenotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4535. en:severe volume depletion --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe volume depletion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4536. en:severity of phenotype may vary with x-inactivation patterns and/or mutation type --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4537. en:similar clinical phenotype to edsiii (130020) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar clinical phenotype to edsiii (130020) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4538. en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4539. en:six genetically confirmed patients have been reported (as of december 2009) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4540. en:skin blistering and photosensitivity improve in adulthood --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4541. en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4542. en:sleep disturbance or sleep apnea (obstructive, central, or mixed) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4543. en:slowly or non-progressive --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slowly or non-progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4544. en:some features are variably expressed --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features are variably expressed | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4545. en:some patients acquire late ambulation --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients acquire late ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4546. en:some patients can hold menial jobs --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients can hold menial jobs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4547. en:some patients develop ophthalmoplegia in middle age --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients develop ophthalmoplegia in middle age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4548. en:some patients have a severe phenotype with neurologic manifestations beginning at birth --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4549. en:some patients may benefit from coenzyme q10 treatment --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4550. en:some patients may develop concurrent failure to thrive and dyslipidemia --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4551. en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4552. en:some patients may not have recurrent infections --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may not have recurrent infections | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4553. en:some patients respond to acetazolamide --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients respond to acetazolamide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4554. en:some patients show improvement in muscle power in the teenage years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show improvement in muscle power in the teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4555. en:some response to l-dopa therapy --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some response to l-dopa therapy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4556. en:spinal tumors are necessary for diagnosis --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spinal tumors are necessary for diagnosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4557. en:spontaneous resorption (rare) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous resorption (rare) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4558. en:spontaneous reversal of gnrh deficiency may occur in some patients --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4559. en:spots occur in 95% of patients but can be absent --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spots occur in 95% of patients but can be absent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4560. en:stage iv, late motor deterioration (when ambulation ceases) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4561. en:sudden death in affected females occurs in the forties --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death in affected females occurs in the forties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4562. en:sudden death in affected males occurs in teens --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death in affected males occurs in teens | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4563. en:sudden infant death may occur --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden infant death may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4564. en:survival to 10 years --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survival to 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4565. en:symptoms may be exacerbated by pregnancy or trauma --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4566. en:symptoms occur only during sleep --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms occur only during sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4567. en:thin, fine hair described in few individuals --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thin, fine hair described in few individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4568. en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4569. en:trauma may accelerate symptoms --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:trauma may accelerate symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4570. en:triggered by exercise, fasting, or other metabolic stresses --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4571. en:triggers are variable, even within a family --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:triggers are variable, even within a family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4572. en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4573. en:two consanguineous turkish families have been reported (last curated january 2015) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4574. en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4575. en:two pakistani families have been reported (last curated december 2012) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4576. en:two related patients have been reported (as of november 2010) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two related patients have been reported (as of november 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4577. en:two sisters have been reported (last curated september 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sisters have been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4578. en:two unrelated families have been reported (as of july 2011) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (as of july 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4579. en:two unrelated japanese families have been reported (last curated september 2014) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4580. en:two unrelated patients have been reported (last curated september 2013) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4581. en:type 1 porencephaly is usually unilateral and results from destructive lesions --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4582. en:type i is infantile-onset, severe --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i is infantile-onset, severe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4583. en:types of psoriasis include - plaque, guttate, erythrodermic, pustular --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4584. en:upper limb involvement occur later --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:upper limb involvement occur later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4585. en:upper limb involvement usually occurs later --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:upper limb involvement usually occurs later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4586. en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4587. en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4588. en:usually fatal in first 2 decades --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually fatal in first 2 decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4589. en:usually favorable response to treatment --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually favorable response to treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4590. en:usually sporadic --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4591. en:usually sporadic, but 1-2% of cases are familial --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4592. en:variable age at onset (range 2 to 48 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 2 to 48 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4593. en:variable age at onset (range 4 to 40 years, mostly in first or second decade) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4594. en:variable age at onset (range childhood to adult) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4595. en:variable age at onset (range childhood to adulthood) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range childhood to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4596. en:variable age of onset (range 13 to 67 years, median 48 years) --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4597. en:variable features and severity --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable features and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4598. en:variable infectious phenotype --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable infectious phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4599. en:variable phenotype depending on residual enzyme activity --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype depending on residual enzyme activity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4600. en:vast majority of heterozygotes are asymptomatic --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vast majority of heterozygotes are asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4601. rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 23 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=23
  4602. en:(2) juvenile or adolescent nephropathic (219900) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4603. en:50% of females have learning disability or mild mental retardation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:50% of females have learning disability or mild mental retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4604. en:80% cases new mutations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:80% cases new mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4605. en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4606. en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4607. en:abnormal morphogenesis of first and second branchial arches --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4608. en:about 15% of female carriers develop renal insufficiency in the second or third decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4609. en:absence seizures usually remit by puberty --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:absence seizures usually remit by puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4610. en:accounts for 5-15% of childhood epilepsies --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for 5-15% of childhood epilepsies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4611. en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4612. en:acral hemorrhagic variant --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acral hemorrhagic variant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4613. en:adult onset, usually 30's to 40's, but up to early 60's --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4614. en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4615. en:affected males show onset of hematuria in first year of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected males show onset of hematuria in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4616. en:age at diagnosis 9 +/- 6 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at diagnosis 9 +/- 6 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4617. en:age at first pregnancy:time:point in time:^patient:quantitative --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4618. en:age at onset 15 to 33 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset 15 to 33 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4619. en:age at onset ranges from 16 years to 65 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age at onset ranges from 16 years to 65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4620. en:age of onset 5 to 19 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 5 to 19 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4621. en:age of onset of upper limb involvement 10-43 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset of upper limb involvement 10-43 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4622. en:age:time:pt:^patient:qn:estimated --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age:time:pt:^patient:qn:estimated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4623. en:all affected individuals have been stillborn or died in the neonatal period --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4624. en:all cases have been sporadic --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases have been sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4625. en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4626. en:all reported cases have de novo mutations (last curated october 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4627. en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4628. en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4629. en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4630. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4631. en:allelic disorder to ifap syndrome (308205) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to ifap syndrome (308205) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4632. en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4633. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4634. en:allelic disorder to primary erythermalgia (133020) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4635. en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4636. en:allelic disorder to spinal muscular atrophy type i (253300) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4637. en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4638. en:allelic to brachydactyly, type a1 (112500) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4639. en:allelic to cartilage-hair hypoplasia (250250) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4640. en:allelic to craniometaphyseal dysplasia (123000) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4641. en:allelic to deafness, autosomal recessive 12 (601386) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4642. en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4643. en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4644. en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4645. en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4646. en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4647. en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4648. en:allelic to usher syndrome, type id (601067) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to usher syndrome, type id (601067) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4649. en:allelic with retinitis pigmentosa 35 (610282) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4650. en:alopecia usually occurs around puberty --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alopecia usually occurs around puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4651. en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4652. en:amelioration with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:amelioration with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4653. en:approximately 35% of patients die during the first 2 years of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4654. en:approximately 60% of brrs patients have pten mutations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 60% of brrs patients have pten mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4655. en:as of 4/2011, 2 patients have been described in detail --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:as of 4/2011, 2 patients have been described in detail | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4656. en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4657. en:associated with the tau (157140) h1 haplotype --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:associated with the tau (157140) h1 haplotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4658. en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4659. en:asymptomatic skin lesions begin on neck in third decade of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4660. en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4661. en:autosomal dominant and autosomal recessive forms --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant and autosomal recessive forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4662. en:autosomal recessive and dominant pedigrees described --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive and dominant pedigrees described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4663. en:autosomal recessive inheritance has been described in 2 families --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4664. en:based on 3 patients from 2 families (last curated january 2015) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4665. en:bleeding episodes occur early in life and may disappear with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4666. en:blistering frequency may decrease with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blistering frequency may decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4667. en:blistering tends to improve with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:blistering tends to improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4668. en:bone abnormalities improve with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:bone abnormalities improve with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4669. en:both demyelinating and axonal features --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both demyelinating and axonal features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4670. en:both homozygous and heterozygous mutations in lrsam1 have been reported --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4671. en:can be categorized into 3 groups --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be categorized into 3 groups | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4672. en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4673. en:can be treated by bone marrow transplantation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:can be treated by bone marrow transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4674. en:candidiasis is usually the first symptom --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:candidiasis is usually the first symptom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4675. en:cardiomyopathy may develop later in the disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiomyopathy may develop later in the disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4676. en:carrier females have arthralgias in middle age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females have arthralgias in middle age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4677. en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4678. en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4679. en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4680. en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4681. en:caused by paternally-inherited inactivating gnas1 mutations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4682. en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4683. en:changes more marked in hands than feet --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:changes more marked in hands than feet | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4684. en:childhood onset (average 4 to 6 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset (average 4 to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4685. en:childhood onset rarely occurs --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset rarely occurs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4686. en:childhood or young adult onset --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood or young adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4687. en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4688. en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4689. en:clinical variability --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4690. en:clinically classified into classic, atypical, and intermediate phenotypes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4691. en:common (up to 7% of the population) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:common (up to 7% of the population) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4692. en:congenital - over 2,000 repeats --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital - over 2,000 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4693. en:congenital onset or onset before 2 years (prelingual) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4694. en:connatal form (type ii), most severe with death in first decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:connatal form (type ii), most severe with death in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4695. en:considered a benign disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:considered a benign disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4696. en:contiguous gene deletion syndrome (in most patients) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4697. en:corneal diameter decreases with decreasing axial length --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:corneal diameter decreases with decreasing axial length | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4698. en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4699. en:death at 13 to 30 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death at 13 to 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4700. en:death by age 3 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death by age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4701. en:death in childhood may occur --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in childhood may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4702. en:death in infancy common for patients with the classic neonatal form --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy common for patients with the classic neonatal form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4703. en:death in infancy due to hyperthermia or apnea --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy due to hyperthermia or apnea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4704. en:death in infancy without bone marrow transplantation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in infancy without bone marrow transplantation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4705. en:death in teens secondary to cardiac failure --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in teens secondary to cardiac failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4706. en:death in utero (30%) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero (30%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4707. en:death often occurs during metabolic/acidotic crisis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often occurs during metabolic/acidotic crisis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4708. en:death usually due to renal failure by average age 3 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually due to renal failure by average age 3 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4709. en:death usually in the perinatal period --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in the perinatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4710. en:death usually occurs in early infancy --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs in early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4711. en:death usually occurs in infancy or childhood if untreated --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs in infancy or childhood if untreated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4712. en:death within first months or years of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within first months or years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4713. en:defect in tetrahydrobiopterin (bh4) synthesis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4714. en:delayed psychomotor development apparent in infancy --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:delayed psychomotor development apparent in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4715. en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4716. en:dermatitis resolves in offspring after zinc supplementation and/or weaning --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4717. en:development of afebrile seizures later in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:development of afebrile seizures later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4718. en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4719. en:dip is a pathologic diagnosis that may represent other disease entities --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4720. en:disease usually progresses in a cephalocaudal direction --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disease usually progresses in a cephalocaudal direction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4721. en:distinct disorder from parkinson disease (168600) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from parkinson disease (168600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4722. en:distinct disorder from reduced zinc in breast milk (608118) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4723. en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4724. en:dysarthria, dysphonia, or cough precede onset of ataxia --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4725. en:earlier onset is associated with more aggressive disease course --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:earlier onset is associated with more aggressive disease course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4726. en:early death due to infection --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death due to infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4727. en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4728. en:environmental triggers - cold and wet exposure --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:environmental triggers - cold and wet exposure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4729. en:episodes are followed by exhaustion and sleep --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodes are followed by exhaustion and sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4730. en:episodic decompensation is usually triggered by illness --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:episodic decompensation is usually triggered by illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4731. en:estimated frequency of 1 in 40,000 live births --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated frequency of 1 in 40,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4732. en:favorable response to corticosteroid treatment (1 family) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4733. en:favorable response to high-dose steroids --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to high-dose steroids | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4734. en:favorable response to l-dopa without side effects --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to l-dopa without side effects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4735. en:favorable response to rituxan (in some patients) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to rituxan (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4736. en:feeding difficulties, including aspiration, ameliorate with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4737. en:female carriers may show mild learning disabilities --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may show mild learning disabilities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4738. en:female to male ratio ranges from 2:1 to 4:1 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4739. en:first name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4740. en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4741. en:five patients have been reported (as of june 2011) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five patients have been reported (as of june 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4742. en:five unrelated cases have been reported (as of march 2012) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4743. en:focal or segmental onset in cranial-cervical area or upper limbs --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4744. en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4745. en:four clinically indistinguishable biochemically distinct forms --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4746. en:four families have been reported (last curated october 2012) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four families have been reported (last curated october 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4747. en:fracture frequency increases after menopause and in men ages 60-80 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4748. en:frequency of episodes ranges from several per week to several per year --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequency of episodes ranges from several per week to several per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4749. en:frequent falls --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequent falls | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4750. en:gei (gene-environment interaction) - association of cardiac events with drug administration --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4751. en:generally benign disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generally benign disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4752. en:genetic heterogeneity (see 145410) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 145410) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4753. en:genetic heterogeneity (see 166600) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 166600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4754. en:genetic heterogeneity (see 259700) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 259700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4755. en:genetic heterogeneity (see 606215) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 606215) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4756. en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4757. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4758. en:genetic heterogeneity (see enfl1, 600513) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4759. en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4760. en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4761. en:germline and somatic mutations contribute to this disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:germline and somatic mutations contribute to this disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4762. en:good response to phosphate treatment --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to phosphate treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4763. en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4764. en:group a, found in north american indians, has lactic acidosis and psychomotor retardation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4765. en:hand involvement improves with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hand involvement improves with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4766. en:haploinsufficiency of grn (138945) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:haploinsufficiency of grn (138945) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4767. en:haploinsufficiency of rps14 (130620) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:haploinsufficiency of rps14 (130620) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4768. en:headache duration 4-72 hours --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:headache duration 4-72 hours | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4769. en:high intrafamilial and interfamilial variability --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high intrafamilial and interfamilial variability | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4770. en:high prevalence in japan --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high prevalence in japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4771. en:higher than expected incidence in identical twins --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:higher than expected incidence in identical twins | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4772. en:hyponatremia usually associated with gastroenteritis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyponatremia usually associated with gastroenteritis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4773. en:inborn error of the pyrimidine degradation pathway --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:inborn error of the pyrimidine degradation pathway | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4774. en:incidence in the finnish population of 0.2-1.3 cases per million per year --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4775. en:incidence in united states of 1 in 55,000 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence in united states of 1 in 55,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4776. en:incidence of 1 in 25,000 to 1 in 50,000 newborns --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4777. en:increased bleeding after surgery --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased bleeding after surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4778. en:increased frequency in the finnish population --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the finnish population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4779. en:increased prevalence in individuals of turkish descent --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence in individuals of turkish descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4780. en:increased rate of miscarriage in affected individuals --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased rate of miscarriage in affected individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4781. en:inheritance may be x-linked dominant --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:inheritance may be x-linked dominant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4782. en:intelligence is normal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intelligence is normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4783. en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4784. en:later onset associated with milder severity has been reported --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset associated with milder severity has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4785. en:later onset may occur (1 to 11 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later onset may occur (1 to 11 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4786. en:leg pain --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:leg pain | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4787. en:lesions appear in infancy or early childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:lesions appear in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4788. en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4789. en:liver enzymes decrease with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:liver enzymes decrease with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4790. en:loss initially affects mid and high frequencies --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:loss initially affects mid and high frequencies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4791. en:majority of affected individuals are female (85%) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of affected individuals are female (85%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4792. en:males mores severely affected than females --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males mores severely affected than females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4793. en:may be exacerbated by febrile illness --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be exacerbated by febrile illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4794. en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4795. en:may be present in asymptomatic adults --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be present in asymptomatic adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4796. en:may be triggered by increased practice --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may be triggered by increased practice | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4797. en:mean age at onset 30.7 years (range 6 to 60 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4798. en:mean age at onset 5 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4799. en:mean age at resolution of symptoms 10 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at resolution of symptoms 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4800. en:mean age of death is 34 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of death is 34 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4801. en:mean age of diagnosis of uterine leiomyomas is 30 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4802. en:mean age of onset 18 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 18 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4803. en:mean age of onset 30 years (range first to seventh decade) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4804. en:mean duration of symptoms 4.2 plus or minus 2.4 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4805. en:mecp2 mutations are those found in females with rett syndrome (312750) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4806. en:meiotic origin >95% maternal, mostly meiosis i --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4807. en:metabolic rate^resting:engrto:pt:^patient:qn --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:metabolic rate^resting:engrto:pt:^patient:qn | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4808. en:mild disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4809. en:mild expression in heterozygous carriers --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild expression in heterozygous carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4810. en:mild features such as digital clubbing may be apparent in older heterozygotes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4811. en:mild to severe forms of disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mild to severe forms of disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4812. en:mildly progressive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mildly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4813. en:more frequent in males --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:more frequent in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4814. en:mosaic distribution of lesions --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mosaic distribution of lesions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4815. en:most affected infants die shortly after birth from respiratory failure --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4816. en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4817. en:most cases are responsive to steroids --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases are responsive to steroids | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4818. en:most cases due to de novo mutation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases due to de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4819. en:most cases occur de novo --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases occur de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4820. en:most common form of inherited, congenital hydrocephalus --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of inherited, congenital hydrocephalus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4821. en:most common inherited ataxia --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common inherited ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4822. en:most patients die of renal failure in early adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die of renal failure in early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4823. en:most retain independent ambulation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most retain independent ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4824. en:most severe type of von willebrand disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most severe type of von willebrand disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4825. en:mother who carries the mutation is clinically unaffected --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mother who carries the mutation is clinically unaffected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4826. en:motor impairment more significant than sensory impairment --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor impairment more significant than sensory impairment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4827. en:motor skills less affected than cognitive skills --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:motor skills less affected than cognitive skills | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4828. en:multiorgan failure may result from hs --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiorgan failure may result from hs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4829. en:mutations show partial penetrance --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutations show partial penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4830. en:neurologic findings closely resemble those of huntington disease (hd, 143100) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4831. en:neurologic signs last hours to days --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic signs last hours to days | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4832. en:neuromuscular forms can present as perinate, infant, child, or adult --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4833. en:newborn period is critical for survival --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:newborn period is critical for survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4834. en:no response to phenobarbital --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no response to phenobarbital | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4835. en:no systemic manifestations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no systemic manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4836. en:nonprogressive or slowly progressive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:nonprogressive or slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4837. en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4838. en:normal alleles have 25 to 44 repeats --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal alleles have 25 to 44 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4839. en:normal birth (finding) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal birth (finding) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4840. en:occurs in 2-5 per 10,000 individuals --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs in 2-5 per 10,000 individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4841. en:occurs most often between 5 and 15 years of age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs most often between 5 and 15 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4842. en:often presents with cranial or cervical involvement --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often presents with cranial or cervical involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4843. en:often results in death in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often results in death in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4844. en:often unilateral involvement --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often unilateral involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4845. en:older patients become wheelchair-dependent --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:older patients become wheelchair-dependent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4846. en:one consanguineous family has been reported (last curated may 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4847. en:one consanguineous family of indian descent has been reported (last curated january 2015) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4848. en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4849. en:one family has been reported (as of january 2011) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of january 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4850. en:one family has been reported (last curated january 2010) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated january 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4851. en:one family has been reported (last curated june 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated june 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4852. en:one family has been reported (last curated october 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated october 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4853. en:one family reported (last curated june 2009) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (last curated june 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4854. en:one family with 6 probands described (as of september 2000) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with 6 probands described (as of september 2000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4855. en:one german family has been reported (as of september 2009) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one german family has been reported (as of september 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4856. en:one palestinian family has been described (last curated april 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one palestinian family has been described (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4857. en:one patient has been reported (last curated july 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated july 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4858. en:one patient has been reported (last curated november 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated november 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4859. en:one patient has been reported (last curated october 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4860. en:one patient who died at 5.5 months of age has been reported (last curated december 2012) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient who died at 5.5 months of age has been reported (last curated december 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4861. en:only 10% develop hypertension at 18 years of age or less --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4862. en:onset 1-12 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 1-12 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4863. en:onset 23 to 30 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 23 to 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4864. en:onset age 14-28 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset age 14-28 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4865. en:onset around adolescence in males --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset around adolescence in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4866. en:onset as neonate --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset as neonate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4867. en:onset at 4 to 7 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 4 to 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4868. en:onset at 4 years of age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 4 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4869. en:onset at age 3-5 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at age 3-5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4870. en:onset in childhood (range 2 to 16 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range 2 to 16 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4871. en:onset in early twenties --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4872. en:onset in fifties or sixties --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fifties or sixties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4873. en:onset in first 8 weeks of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first 8 weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4874. en:onset in first decade (birth to age 5 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade (birth to age 5 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4875. en:onset in first or second decades --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first or second decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4876. en:onset in fourth and fifth decades --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in fourth and fifth decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4877. en:onset in infancy or childhood (range 1 to 6 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4878. en:onset in infancy, but may not be diagnosed until later in mild cases --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4879. en:onset in second decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4880. en:onset in second half of the first decade of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second half of the first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4881. en:onset in teenage years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4882. en:onset in the 3rd decade of life or later --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the 3rd decade of life or later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4883. en:onset in the first hours or days of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first hours or days of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4884. en:onset in young adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4885. en:onset late childhood (8 to 14 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset late childhood (8 to 14 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4886. en:onset may also occur in early infancy, adolescence, or adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4887. en:onset of acanthosis nigricans correlates with onset of diabetes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4888. en:onset of acute encephalopathic attacks in childhood (3 to 7 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4889. en:onset of bleeding symptoms in childhood or young adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4890. en:onset of disease 3-8 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease 3-8 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4891. en:onset of edema in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of edema in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4892. en:onset of hearing loss in first or second decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in first or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4893. en:onset of hyperuricemia or gout in young adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4894. en:onset of joint pain in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of joint pain in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4895. en:onset of lipodystrophy later in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of lipodystrophy later in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4896. en:onset of muscle weakness around age 5 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of muscle weakness around age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4897. en:onset of osteoarthritis in teens to early adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4898. en:onset of parkinsonism in early twenties --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of parkinsonism in early twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4899. en:onset of seizures in first 6 months of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in first 6 months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4900. en:onset of seizures in infancy --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4901. en:onset of spastic paraplegia in first year of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of spastic paraplegia in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4902. en:onset of symptoms in fifth decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4903. en:onset of symptoms in first decade of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4904. en:onset of symptoms in second decade of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4905. en:onset of tumors usually in adulthood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of tumors usually in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4906. en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4907. en:onset ranges from young adulthood to sixties --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from young adulthood to sixties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4908. en:onset usually before age 10 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually before age 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4909. en:onset usually in childhood (1 to 9 years of age) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4910. en:onset usually in childhood (range 6 months to 16 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4911. en:onset usually in first year of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4912. en:onset usually in infancy or childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4913. en:onset usually in second decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4914. en:onset within first year of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset within first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4915. en:overlap with tourette syndrome (137580) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:overlap with tourette syndrome (137580) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4916. en:pain is relieved by antiinflammatory medication --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pain is relieved by antiinflammatory medication | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4917. en:pathogenic alleles contain 71 to 1,300 repeats --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4918. en:patient with truncating mutations are more likely to develop neurologic abnormalities --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4919. en:patients do not have ectopia lentis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients do not have ectopia lentis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4920. en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4921. en:patients look as if they have protein deficiency or malnutrition --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4922. en:patients may become wheelchair-bound --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may become wheelchair-bound | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4923. en:patients may or may not have dysmorphic features --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may or may not have dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4924. en:patients may present with recurrent illnesses or infections, or shock --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4925. en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4926. en:patients present at birth with respiratory distress or poor head control --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients present at birth with respiratory distress or poor head control | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4927. en:patients show sorbitol and glycerol intolerance --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients show sorbitol and glycerol intolerance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4928. en:patients who acquire ability to walk may lose it --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients who acquire ability to walk may lose it | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4929. en:patients with later onset do not have dysmorphic features --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with later onset do not have dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4930. en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4931. en:penetrance is usually complete by age 65 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:penetrance is usually complete by age 65 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4932. en:performing laboratory phone:tele:pt:facility:nom --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4933. en:performing laboratory:addr:pt:facility:nom --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:performing laboratory:addr:pt:facility:nom | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4934. en:phenotypic overlap with frontotemporal dementia (600274) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4935. en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4936. en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4937. en:phenotypic variation in severity and symptoms --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variation in severity and symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4938. en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4939. en:polg mutations account for approximately 45% of all peo cases --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4940. en:polyps occur in teens --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:polyps occur in teens | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4941. en:poor or no response to glucocorticoid treatment --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor or no response to glucocorticoid treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4942. en:poor outcome --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor outcome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4943. en:possible genetic heterogeneity (linkage to xp22 in some families) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4944. en:possible increase of aneuploidy in offspring --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:possible increase of aneuploidy in offspring | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4945. en:precipitating factors include viral illness and pregnancy --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:precipitating factors include viral illness and pregnancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4946. en:predominantly occurs in young males with a high rate of atopic disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4947. en:predominantly occurs in young males with high rate of atopic disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4948. en:present at birth --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:present at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4949. en:presentation after 6 months --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation after 6 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4950. en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4951. en:prevalence in the finnish population of 5.8 per million --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence in the finnish population of 5.8 per million | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4952. en:prevalence much higher in whites than blacks --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence much higher in whites than blacks | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4953. en:prevalence of 0.6 to 10 per 100,000 individuals --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4954. en:prevalence of 1 in 10,000 caucasians --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 10,000 caucasians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4955. en:prevalence of 1 in 150 to 1 in 1,000 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4956. en:prevalence of 1 in 227 hopi indians --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 227 hopi indians | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4957. en:prevalence of 1 in 50,000-70,000 live births --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4958. en:prognosis good --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prognosis good | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4959. en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4960. en:provoked by crying or emotional upset --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:provoked by crying or emotional upset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4961. en:rapidly progressive deterioration (in some patients) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapidly progressive deterioration (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4962. en:rarely reported in infants --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rarely reported in infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4963. en:recurrent bacterial infections with onset in the first or second year of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4964. en:reference lab test name:type:time reported elsewhere:reference lab test:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4965. en:residual neurologic deficits are slowly progressive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:residual neurologic deficits are slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4966. en:rickets and premature primary tooth loss occur in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4967. en:risk of thromboembolic stroke --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of thromboembolic stroke | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4968. en:secondary hemorrhage --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:secondary hemorrhage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4969. en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4970. en:see also autosomal dominant hypophosphatemic rickets (193100) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4971. en:see also autosomal dominant robinow syndrome (180700) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4972. en:see also autosomal recessive familial mediterranean fever (fmf, 249100) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4973. en:see also dent disease 2 (300555) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also dent disease 2 (300555) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4974. en:see also dyssegmental dysplasia, silverman-handmaker type (224410) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4975. en:see also mmab (251110) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also mmab (251110) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4976. en:see also more severe phenotype peeling skin syndrome (270300) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4977. en:see also the x-linked form (300291) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also the x-linked form (300291) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4978. en:seizures and dystonia peak during childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures and dystonia peak during childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4979. en:seizures are fever-sensitive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are fever-sensitive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4980. en:seizures are refractory --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are refractory | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4981. en:seizures are responsive to pyridoxine treatment --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures are responsive to pyridoxine treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4982. en:seizures remit by age 5 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures remit by age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4983. en:seizures remit in later childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures remit in later childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4984. en:seizures tend to occur upon awakening --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures tend to occur upon awakening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4985. en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4986. en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4987. en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4988. en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4989. en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4990. en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4991. en:severe neurodegenerative course resulting in a comatose state or death --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4992. en:severe phenotype onset - neonate --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:severe phenotype onset - neonate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4993. en:single mitochondrial dna deletions are found in sporadic kss patients --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4994. en:six patients reported (last curated march 2015) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients reported (last curated march 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4995. en:skin wrinkling improves with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin wrinkling improves with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4996. en:sleepwalking usually remits in adolescence --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sleepwalking usually remits in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4997. en:some carrier females have episodes of significant hyperammonemia in infancy or childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4998. en:some features may be progressive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features may be progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  4999. en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5000. en:some patients are asymptomatic and detected only by newborn screening --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5001. en:some patients do not reach end-stage renal failure --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not reach end-stage renal failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5002. en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5003. en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5004. en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5005. en:some patients have persistence of seizures to adulthood, but then show remission --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5006. en:some patients may become bedridden 10 to 20 years after onset --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5007. en:some patients may have a milder phenotype --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have a milder phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5008. en:some patients may have a more protracted disorder with neurodegeneration --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5009. en:some patients may not achieve walking --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may not achieve walking | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5010. en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5011. en:some patients report increased tolerance to heat --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients report increased tolerance to heat | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5012. en:some patients show normal development until onset of disorder --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show normal development until onset of disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5013. en:some patients show rapid disease progression --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients show rapid disease progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5014. en:sparing of some nails in some individuals --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sparing of some nails in some individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5015. en:spinal involvement improves with age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spinal involvement improves with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5016. en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5017. en:spontaneous resolution of seizures by 12 months of age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5018. en:sporadic cases often single lesions versus multiple lesions in familial cases --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5019. en:stable or slowly progressive course --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:stable or slowly progressive course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5020. en:survivors develop dysautonomia-like symptoms --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survivors develop dysautonomia-like symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5021. en:survivors may develop renal insufficiency and hepatic dysfunction --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5022. en:susceptibility to infections starts in the first week of life --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:susceptibility to infections starts in the first week of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5023. en:symptoms of zinc deficiency occur only in exclusively breastfed infants --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5024. en:symptoms relieved by progesterone antagonist (in some patients) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5025. en:symptoms remain focal --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms remain focal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5026. en:systemic granulomatous disease --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:systemic granulomatous disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5027. en:the most studied group is efe pygmies from ituri forest in northeast zaire --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5028. en:three main phenotypes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three main phenotypes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5029. en:three males in 1 family have been reported (last curated august 2012) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5030. en:three patients have been reported (as of october 2009) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been reported (as of october 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5031. en:trauma, im injection, surgery can be foci of ectopic ossification --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5032. en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5033. en:triggered by minor head trauma --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:triggered by minor head trauma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5034. en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5035. en:tumors may show spontaneous regression --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tumors may show spontaneous regression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5036. en:tumors usually develop between 40 and 60 years of age --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tumors usually develop between 40 and 60 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5037. en:two chinese sisters and one chinese woman have been described (last curated april 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5038. en:two families have been reported (as of may 2011) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of may 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5039. en:two families have been reported (last curated december 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5040. en:two families with different phenotypes have been reported (as of september 2010) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5041. en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5042. en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5043. en:two patients reported (last curated may 2013) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients reported (last curated may 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5044. en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5045. en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5046. en:two unrelated families have been reported (last curated august 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5047. en:two unrelated families have been reported (last curated may 2014) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5048. en:two unrelated patients have been reported (as of august 2010) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5049. en:two unrelated patients have been reported (last curated january 2015) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5050. en:two unrelated patients with epileptic encephalopathy have been reported --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5051. en:type 3 - brandywine isolate opalescent dentin (125500) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5052. en:type ii is progressive and leads to shortened lifespan --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type ii is progressive and leads to shortened lifespan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5053. en:typical attacks last from seconds to minutes, but longer occurrences have been reported --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5054. en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5055. en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5056. en:usual onset under age 30 years --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usual onset under age 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5057. en:usually adult onset --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually adult onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5058. en:usually begins in feet and legs (peroneal distribution) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5059. en:usually death in utero or rarely in neonatal period --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually death in utero or rarely in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5060. en:usually follows a static course or is slowly progressive --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually follows a static course or is slowly progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5061. en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5062. en:variable age at diagnosis --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at diagnosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5063. en:variable age at onset (birth to adolescence) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (birth to adolescence) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5064. en:variable age at onset (range 14 to 50 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 14 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5065. en:variable age at onset (range 25 to 78 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 25 to 78 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5066. en:variable age at onset (range 6 to 54 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 6 to 54 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5067. en:variable age at onset, but usually in childhood --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, but usually in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5068. en:variable age of onset (childhood to young adulthood) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (childhood to young adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5069. en:variable age of onset (range 1-40 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (range 1-40 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5070. en:variable clinical presentation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable clinical presentation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5071. en:variable distribution, may be focal, segmental, multifocal, or generalized --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5072. en:variable expressivity --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expressivity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5073. en:variable expressivity within a family --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expressivity within a family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5074. en:variable frequency (daily to monthly) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable frequency (daily to monthly) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5075. en:variable frequency and duration of episodes --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable frequency and duration of episodes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5076. en:variable heat tolerance --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable heat tolerance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5077. en:variable pattern of body involvement although symptoms may predominate in upper or lower body --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5078. en:variable phenotype and severity --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5079. en:variable severity of brain malformations --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity of brain malformations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5080. en:variably severity --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variably severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5081. en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5082. en:very variable phenotype, with some patients having many features and others only a few --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5083. en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5084. en:waddling gait --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:waddling gait | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5085. en:wasting of the hands is the first and most prominent manifestation --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5086. en:weakness during pregnancy in affected females --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:weakness during pregnancy in affected females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5087. en:wheelchair-bound average 12 years after onset --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:wheelchair-bound average 12 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5088. en:worsening of symptoms during sleep --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worsening of symptoms during sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5089. en:young adult onset (range 13 to 50 years) --- r_associated #0: 22 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:young adult onset (range 13 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=22
  5090. en:(1) classic severe (onset of symptoms 4 to 7 days of age) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5091. en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5092. en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5093. en:14 patients in 8 recessive kindreds reported (as of february 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5094. en:2 patients described --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:2 patients described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5095. en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5096. en:87% patients are female --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:87% patients are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5097. en:95% of cases are sporadic --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:95% of cases are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5098. en:about 25% of cases due to new mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 25% of cases due to new mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5099. en:about 50% of patients have intellectual disability and/or hydrocephalus --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5100. en:accounts for 70% of all usher syndrome patients --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:accounts for 70% of all usher syndrome patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5101. en:acquired disorder --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acquired disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5102. en:acute attacks rarely occur before puberty --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:acute attacks rarely occur before puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5103. en:additional developmental abnormalities may be seen in some patients --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:additional developmental abnormalities may be seen in some patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5104. en:adult onset (forties) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (forties) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5105. en:adult onset (mean 60 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean 60 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5106. en:adult onset (mean age 37 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (mean age 37 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5107. en:adult onset (thirties to forties) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset (thirties to forties) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5108. en:adult onset - 100-1,000 repeats --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset - 100-1,000 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5109. en:adult onset form usually presents with psychiatric manifestations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5110. en:adult onset of muscle symptoms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:adult onset of muscle symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5111. en:affected females have been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected females have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5112. en:affected individuals are highly prone to burn-related injuries --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affected individuals are highly prone to burn-related injuries | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5113. en:affects up to 10% of the population --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:affects up to 10% of the population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5114. en:age of onset 1 to 2 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 1 to 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5115. en:age of onset 2-8 months --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset 2-8 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5116. en:age of onset third decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:age of onset third decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5117. en:all cases due to de novo mutation (last curated february 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5118. en:all de novo mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5119. en:all patients have severe hearing loss 10 to 15 years after onset --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5120. en:allelic disorder is brugada syndrome (601144) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder is brugada syndrome (601144) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5121. en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5122. en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5123. en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5124. en:allelic disorder to charcot-marie-tooth disease type 1a (118220) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5125. en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5126. en:allelic disorder to glut1 deficiency syndrome 1 (606777) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5127. en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5128. en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5129. en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5130. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5131. en:allelic disorder to nonaka myopathy (605820) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to nonaka myopathy (605820) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5132. en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5133. en:allelic disorder to rett syndrome (312750) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to rett syndrome (312750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5134. en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5135. en:allelic disorder to rippling muscle disease (rmd, 606072) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5136. en:allelic disorder to schindler disease (609241) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to schindler disease (609241) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5137. en:allelic disorder to the zlotogora-ogur syndrome (225000) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5138. en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5139. en:allelic to acrokeratosis verruciformis (101900) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5140. en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5141. en:allelic to nephronophthisis 4 (606966) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to nephronophthisis 4 (606966) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5142. en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5143. en:allelic to rett syndrome (312750) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to rett syndrome (312750) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5144. en:allelic to roberts syndrome (268300) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to roberts syndrome (268300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5145. en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5146. en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5147. en:allelic with smith-mccort dysplasia (607326) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5148. en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5149. en:approximately 80% of cs patients have pten mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately 80% of cs patients have pten mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5150. en:approximately half of cases are due to unbalanced rearrangements, which may be familial --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5151. en:association with autoimmune diseases --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:association with autoimmune diseases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5152. en:asymptomatic younger patients show characteristic basal ganglia calcifications --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5153. en:attack frequency may occur several times per week to once per year --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attack frequency may occur several times per week to once per year | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5154. en:attacks may present during or after sleep --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks may present during or after sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5155. en:attacks typically last for minutes --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:attacks typically last for minutes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5156. en:autonomic dysfunction usually precedes obvious neurologic deterioration --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5157. en:autonomic symptoms occur with headaches --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autonomic symptoms occur with headaches | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5158. en:autosomal dominant inheritance is more common --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal dominant inheritance is more common | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5159. en:autosomal recessive cases tend to have a more severe phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5160. en:average duration of illness 8 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:average duration of illness 8 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5161. en:based on 1 5-generation family (last curated january 2015) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5162. en:based on 1 reported family (last curated december 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 1 reported family (last curated december 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5163. en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5164. en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5165. en:based on report of 2 consanguineous arab families (last curated november 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5166. en:based on report of one consanguineous kuwaiti family (last curated december 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5167. en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5168. en:both heterozygous and homozygous pax3 mutations have been found --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5169. en:broad range in severity of presentation in sibships --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:broad range in severity of presentation in sibships | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5170. en:candidiasis is restricted to nails of hands and feet --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:candidiasis is restricted to nails of hands and feet | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5171. en:capillary malformation are apparent at birth --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:capillary malformation are apparent at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5172. en:cardiac failure at birth --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cardiac failure at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5173. en:carrier frequency 1:200,000 in france --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:carrier frequency 1:200,000 in france | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5174. en:caused by inborn error in bile acid synthesis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:caused by inborn error in bile acid synthesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5175. en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5176. en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5177. en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5178. en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5179. en:childhood onset has been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5180. en:childhood onset has been reported in 1 family --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:childhood onset has been reported in 1 family | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5181. en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5182. en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5183. en:clinical severity varies --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:clinical severity varies | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5184. en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5185. en:colchicine treatment is not effective --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:colchicine treatment is not effective | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5186. en:cold temeratures exacerbate symptoms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cold temeratures exacerbate symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5187. en:common in afrikaan population, south africa --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:common in afrikaan population, south africa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5188. en:common in japan and other asian populations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:common in japan and other asian populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5189. en:complete manifestation in males --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete manifestation in males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5190. en:complete penetrance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5191. en:complicated and pure forms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:complicated and pure forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5192. en:congenital disorders --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:congenital disorders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5193. en:cutaneous leiomyomas increase in number over time --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cutaneous leiomyomas increase in number over time | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5194. en:de novo mutations occur almost exclusively on the paternally derived x chromosome --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5195. en:death about 20 years after symptom onset --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death about 20 years after symptom onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5196. en:death can occur in infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death can occur in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5197. en:death in early infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in early infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5198. en:death in first months of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5199. en:death in the mid-twenties --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in the mid-twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5200. en:death in utero --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death in utero | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5201. en:death may occur in the first decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death may occur in the first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5202. en:death often before age 2 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death often before age 2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5203. en:death usually by 1 year of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually by 1 year of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5204. en:death usually by age 10 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually by age 10 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5205. en:death usually in teenage years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5206. en:death usually in the first 2 years of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually in the first 2 years of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5207. en:death usually occurs in childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death usually occurs in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5208. en:death within first decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:death within first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5209. en:described in families from galicia, spain --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in families from galicia, spain | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5210. en:described in individuals of jewish bukharian descent --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in individuals of jewish bukharian descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5211. en:described in individuals of roma gypsy origin (founder mutation) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5212. en:diabetes mellitus develops in adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diabetes mellitus develops in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5213. en:diagnosis typically between age 10-20 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:diagnosis typically between age 10-20 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5214. en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5215. en:distinct disorder from familial limb-girdle myasthenia (254200) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5216. en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5217. en:does not lead to hepatic failure --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:does not lead to hepatic failure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5218. en:dystonia is usually focal or segmental --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:dystonia is usually focal or segmental | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5219. en:early death --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5220. en:early death from infection may occur --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death from infection may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5221. en:early death in the first few weeks of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death in the first few weeks of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5222. en:early death without kidney transplant --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:early death without kidney transplant | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5223. en:empiric risk for a sib of an affected child between 2 and 5% --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5224. en:encephalopathic episodes associated with increased serum and csf lactate --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5225. en:end-stage renal failure in first or second decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:end-stage renal failure in first or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5226. en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5227. en:expression more severe in females than males, except for mosaic males --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:expression more severe in females than males, except for mosaic males | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5228. en:familial cases are rare and show incomplete penetrance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:familial cases are rare and show incomplete penetrance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5229. en:fatal in the neonatal period (in some patients) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fatal in the neonatal period (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5230. en:favorable response to acetylcholinesterase inhibitors --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5231. en:features in addition to mental retardation are variable --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features in addition to mental retardation are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5232. en:features intermediate between demyelinating cmt and axonal cmt --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5233. en:features may be bilateral (15/24) or left side (9/24) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5234. en:febrile illness may precipitate attacks of weakness --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:febrile illness may precipitate attacks of weakness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5235. en:feet are unaffected --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:feet are unaffected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5236. en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5237. en:female carriers may have mild hearing impairment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female carriers may have mild hearing impairment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5238. en:female preponderance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:female preponderance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5239. en:females are more often affected --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:females are more often affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5240. en:fever of unknown origin --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:fever of unknown origin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5241. en:figure associated with report or note:-:point in time:^patient:- --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5242. en:five clinical variants of msud unassociated with genotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five clinical variants of msud unassociated with genotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5243. en:five unrelated patients have been reported (as of december 2009) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5244. en:five unrelated patients have been reported (nov. 2009) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5245. en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5246. en:for similar autosomal recessive form, see cln4 (204300) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5247. en:found predominantly in the amish population --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:found predominantly in the amish population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5248. en:four major groups: early infantile, late infantile, juvenile, adult --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5249. en:four patients from 3 families have been reported (last curated december 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5250. en:four patients have been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:four patients have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5251. en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5252. en:frequently death in infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:frequently death in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5253. en:generally mild phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generally mild phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5254. en:generally static disease course --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:generally static disease course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5255. en:genetic heterogeneity (bor2, 610896) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (bor2, 610896) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5256. en:genetic heterogeneity (see 304800) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see 304800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5257. en:genetic heterogeneity (see bscl1, 608594) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5258. en:genetic heterogeneity (see cmt4a 214400) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5259. en:genetic heterogeneity (see coxpd1, 609060) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5260. en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5261. en:genetic heterogeneity (see etl2, 608096) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5262. en:genetic heterogeneity (see lqt1 192500) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5263. en:genetic heterogeneity (see mada, 248370) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see mada, 248370) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5264. en:genetic heterogeneity (see mcc2 deficiency 210210) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5265. en:genetic heterogeneity (see rls2, 608831) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5266. en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5267. en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5268. en:genetic heterogeneity, see evr1 (133780) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5269. en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5270. en:hair may normalize at puberty --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair may normalize at puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5271. en:hair, nails, and teeth are normal --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hair, nails, and teeth are normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5272. en:heterozygous mutations reported, see 606609.0006 and 606609.0007 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5273. en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5274. en:high frequency in tibetan individuals --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:high frequency in tibetan individuals | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5275. en:highly variable dysmorphic features --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:highly variable dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5276. en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5277. en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5278. en:incidence 1 in 50,000-100,000 in western europe --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5279. en:incidence 7-15% in pacific island populations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence 7-15% in pacific island populations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5280. en:incomplete penetrance, some individuals have only emg changes without other clinical signs --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5281. en:increased frequency in finland --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in finland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5282. en:increased frequency in individuals originating from western scotland --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in individuals originating from western scotland | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5283. en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5284. en:increased frequency in the faroe islands (carrier 1 in 25) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5285. en:increased prevalence in persons of ashkenazi jewish descent --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5286. en:increased risk of miscarriage --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased risk of miscarriage | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5287. en:increased spontaneous abortions in carrier mothers --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:increased spontaneous abortions in carrier mothers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5288. en:individuals with the pcs trait are phenotypically normal --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:individuals with the pcs trait are phenotypically normal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5289. en:initially normal for first 6-18 months which is then followed by withdrawal and regression --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5290. en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5291. en:intermittent pyrexia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intermittent pyrexia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5292. en:intrafamilial variability in severity --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:intrafamilial variability in severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5293. en:isolated cases --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:isolated cases | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5294. en:juvenile absence epilepsy (jae, 607631) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5295. en:laboratory comment:txt:pt:report:nar --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:laboratory comment:txt:pt:report:nar | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5296. en:later childhood onset has been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:later childhood onset has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5297. en:length of calorie fast:time:point in time:^patient:quantitative --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5298. en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5299. en:less severe phenotype in females --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:less severe phenotype in females | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5300. en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5301. en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5302. en:majority are sporadic cases, affected sibs have been described --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority are sporadic cases, affected sibs have been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5303. en:majority of cases are due to de novo mutation --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases are due to de novo mutation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5304. en:majority of cases in japan --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of cases in japan | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5305. en:majority of eec cases appear to be secondary to tp63 (603273) mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5306. en:male-to-female ratio 3 to 1 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:male-to-female ratio 3 to 1 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5307. en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5308. en:may have less severe phenotype than rsts patients with crebbp mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5309. en:may progress to upper limbs --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:may progress to upper limbs | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5310. en:mean age at onset 23.9 years (range 10 to 55 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5311. en:mean age at onset 48 years (range 38 to 64) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5312. en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5313. en:mean age at onset of muscle disease is 42 years (range 24-61) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5314. en:mean age of onset 30 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mean age of onset 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5315. en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5316. en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5317. en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5318. en:minimal response to surfactant treatment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:minimal response to surfactant treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5319. en:mode of inheritance is unclear --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mode of inheritance is unclear | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5320. en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5321. en:most affected males die of respiratory failure within the first months of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most affected males die of respiratory failure within the first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5322. en:most case are sporadic --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most case are sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5323. en:most cases are isolated --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases are isolated | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5324. en:most cases do not have mutations in the mapt gene, but map to chromosome 17q --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5325. en:most cases result from de novo mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most cases result from de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5326. en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5327. en:most common form of bowel obstruction in infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most common form of bowel obstruction in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5328. en:most have resolution of symptoms between 6 and 12 months --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5329. en:most patients are stillborn or die in immediate neonatal period --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5330. en:most patients die within the first year of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients die within the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5331. en:most patients have de novo mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients have de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5332. en:most patients present in infancy with anemia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most patients present in infancy with anemia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5333. en:most remit by 2 months --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:most remit by 2 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5334. en:multiple gene loci involved in causation of schizophrenia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5335. en:multiple spontaneous abortions in obligate carriers --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:multiple spontaneous abortions in obligate carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5336. en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5337. en:mutation in npr2 results in gain-of-function --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutation in npr2 results in gain-of-function | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5338. en:mutations occur de novo --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:mutations occur de novo | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5339. en:neonatal severe hyperparathyroidism in homozygotes (239200) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5340. en:neurologic features occur in adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic features occur in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5341. en:neurologic signs may not be present --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neurologic signs may not be present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5342. en:neuropsychiatric manifestations are variable --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:neuropsychiatric manifestations are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5343. en:ninety percent of cases are female --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ninety percent of cases are female | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5344. en:no congenital form --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no congenital form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5345. en:no family history, de novo mutations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no family history, de novo mutations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5346. en:no skeletal abnormalities in odontohypophosphatasia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5347. en:normal female secondary sexual characteristics --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal female secondary sexual characteristics | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5348. en:normal intelligence in majority --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal intelligence in majority | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5349. en:normal sialophorin gene --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:normal sialophorin gene | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5350. en:obligate female carriers may show mild signs of muscle weakness, especially of the face --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5351. en:occurs at age 20-50 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs at age 20-50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5352. en:occurs most often among black africans --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs most often among black africans | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5353. en:occurs much more commonly in women --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:occurs much more commonly in women | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5354. en:often lethal in infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:often lethal in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5355. en:one consanguineous saudi arabian family has been reported (last curated august 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5356. en:one consanguineous turkish family has been reported (last curated november 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5357. en:one family has been reported (as of september 2011) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (as of september 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5358. en:one family has been reported (last curated august 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5359. en:one family has been reported (last curated february 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated february 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5360. en:one family has been reported (last curated july 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated july 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5361. en:one family has been reported (last curated march 2015) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family has been reported (last curated march 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5362. en:one family of italian-american descent has been described --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family of italian-american descent has been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5363. en:one family reported (as of november 2011) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family reported (as of november 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5364. en:one family with a fatal subacute encephalopathy has been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5365. en:one french family has been reported (last curated march 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one french family has been reported (last curated march 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5366. en:one italian family has been reported (last curated july 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one italian family has been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5367. en:one patient died at 17 months of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient died at 17 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5368. en:one patient has been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5369. en:one patient has been reported (as of april 2011) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (as of april 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5370. en:one patient has been reported (last curated april 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient has been reported (last curated april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5371. en:one report of brother and sister from nonconsanguineous parents --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5372. en:only 13% develop hypertension at 18 years of age or less --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5373. en:onset 0-12 hours after birth --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 0-12 hours after birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5374. en:onset 5 to 7 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset 5 to 7 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5375. en:onset age 32 to 45 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset age 32 to 45 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5376. en:onset around puberty --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset around puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5377. en:onset at 4 to 9 weeks of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 4 to 9 weeks of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5378. en:onset at 6-9 months --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at 6-9 months | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5379. en:onset at age 5 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset at age 5 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5380. en:onset before age 3 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset before age 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5381. en:onset between 3 and 11 years of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 3 and 11 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5382. en:onset between 6 and 15 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 6 and 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5383. en:onset between 6 and 16 years of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 6 and 16 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5384. en:onset between 8 and 30 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between 8 and 30 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5385. en:onset between ages 16-55 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between ages 16-55 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5386. en:onset between ages 5 and 15 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset between ages 5 and 15 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5387. en:onset early childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5388. en:onset in childhood (later than in antenatal bartter syndrome 241200) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5389. en:onset in childhood (range 1 to 9 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood (range 1 to 9 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5390. en:onset in childhood of blistering and pigmentary changes --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood of blistering and pigmentary changes | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5391. en:onset in childhood or adolescence (median age of 9 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5392. en:onset in early adulthood (average 26 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early adulthood (average 26 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5393. en:onset in early childhood (infancy to age 7 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early childhood (infancy to age 7 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5394. en:onset in early first decade, although some patients have onset at birth or early in infancy --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5395. en:onset in first decade of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in first decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5396. en:onset in infancy (3 to 7 months) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (3 to 7 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5397. en:onset in infancy (first hours to weeks of life) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in infancy (first hours to weeks of life) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5398. en:onset in late-childhood to early adulthood (12 to 20 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5399. en:onset in mid to late childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in mid to late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5400. en:onset in second to fifth decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second to fifth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5401. en:onset in second to fourth decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in second to fourth decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5402. en:onset in the first few months of life patients may need lifelong total parenteral nutrition --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5403. en:onset in the first months of life (3 to 7 months) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the first months of life (3 to 7 months) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5404. en:onset in the second or third decade of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the second or third decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5405. en:onset in the sixth or seventh decades --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in the sixth or seventh decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5406. en:onset in young adulthood or adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset in young adulthood or adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5407. en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5408. en:onset may occur in adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset may occur in adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5409. en:onset of acne in adolescence, persists into adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of acne in adolescence, persists into adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5410. en:onset of ataxia and neuropathy in early twenties --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of ataxia and neuropathy in early twenties | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5411. en:onset of bleeding in infancy or early childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of bleeding in infancy or early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5412. en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5413. en:onset of cardiac symptoms in adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of cardiac symptoms in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5414. en:onset of diabetes in teenage years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of diabetes in teenage years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5415. en:onset of disease 7 months to 3 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of disease 7 months to 3 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5416. en:onset of gastrointestinal tumors typically occurs in the second decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5417. en:onset of hearing loss in childhood (range 7 to 13 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5418. en:onset of lipodystrophy in early childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of lipodystrophy in early childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5419. en:onset of lymphedema before puberty --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of lymphedema before puberty | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5420. en:onset of macrocephaly in the first year of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of macrocephaly in the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5421. en:onset of mild symptoms in first or second decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of mild symptoms in first or second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5422. en:onset of neurologic events can occur between 4 and 35 years of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5423. en:onset of seizures before age 2 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures before age 2 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5424. en:onset of seizures in first months of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures in first months of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5425. en:onset of seizures ranges from 2 to 11 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of seizures ranges from 2 to 11 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5426. en:onset of symptoms age 5-30 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms age 5-30 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5427. en:onset of symptoms in third to sixth decade of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of symptoms in third to sixth decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5428. en:onset of tremor usually before onset of seizures --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset of tremor usually before onset of seizures | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5429. en:onset precipitated by fasting or illness --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset precipitated by fasting or illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5430. en:onset ranges from childhood to young adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset ranges from childhood to young adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5431. en:onset usually after viral-like infection --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually after viral-like infection | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5432. en:onset usually in first decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5433. en:onset usually in first or second decades --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in first or second decades | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5434. en:onset usually in mid-teens, average 15 years (range 2 to 20 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5435. en:onset usually in second decade of life, although earlier and later onset have been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5436. en:other half show head circumference more retarded than height --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:other half show head circumference more retarded than height | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5437. en:painful cramping following ischemic exercise test --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:painful cramping following ischemic exercise test | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5438. en:part of 'dent disease complex' --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:part of 'dent disease complex' | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5439. en:partial factor viii deficiency in heterozygous carriers --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5440. en:pathogenic alleles have 19 to 33 repeats --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5441. en:pathogenic cag repeat length is 51 to 78 triplets --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5442. en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5443. en:patients become wheelchair-bound as adults --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients become wheelchair-bound as adults | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5444. en:patients become wheelchair-bound in second decade --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients become wheelchair-bound in second decade | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5445. en:patients develop multiple tumors --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients develop multiple tumors | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5446. en:patients do not have clinical hypothyroidism --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients do not have clinical hypothyroidism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5447. en:patients may become ventilator-dependent --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may become ventilator-dependent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5448. en:patients may present with either renal or neurologic symptoms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients may present with either renal or neurologic symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5449. en:patients often require implantation of a pacemaker --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients often require implantation of a pacemaker | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5450. en:patients retain ambulation even after long disease course --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients retain ambulation even after long disease course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5451. en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5452. en:patients with mutation in the nhlrc1 gene have slightly longer survival --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5453. en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5454. en:periventricular heterotopia (300049) is an allelic disorder --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5455. en:phenotype may be exacerbated by maltreatment in childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5456. en:phenotypic heterogeneity --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic heterogeneity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5457. en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5458. en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5459. en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5460. en:phenotypic similarities to angelman syndrome (105830) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5461. en:phenotypic similarities to costello syndrome (218040) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5462. en:phenotypic variability, intrafamilial --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:phenotypic variability, intrafamilial | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5463. en:plantar contractures become apparent with onset of ambulation --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:plantar contractures become apparent with onset of ambulation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5464. en:poor response to g-csf treatment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to g-csf treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5465. en:poor response to levodopa treatment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:poor response to levodopa treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5466. en:positive family history in 12-33% patients --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:positive family history in 12-33% patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5467. en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5468. en:prevalence of 1 in 3,900 in south africa --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 3,900 in south africa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5469. en:prevalence of 1 in 6,000 to 1 in 10,000 --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5470. en:prevalence of essential tremor ranges from 0.4 to 6% in the general population --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5471. en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5472. en:progressive disorder regarding both neurologic and renal symptoms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5473. en:protein c deficiency is found in 3-4% of patients with venous thromboembolism --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5474. en:ptosis is usually presenting feature --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:ptosis is usually presenting feature | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5475. en:rapid progression in adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rapid progression in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5476. en:rare spontaneous improvement occurs (8%) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rare spontaneous improvement occurs (8%) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5477. en:rarely produces clinical jaundice --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rarely produces clinical jaundice | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5478. en:rarely, patients may be asymptomatic --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:rarely, patients may be asymptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5479. en:recessive inheritance has been reported --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recessive inheritance has been reported | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5480. en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5481. en:regression in infancy (in some patients) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:regression in infancy (in some patients) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5482. en:relatively benign course after acute episodes in childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively benign course after acute episodes in childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5483. en:relatively slow progression --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:relatively slow progression | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5484. en:reported cases all sporadic --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:reported cases all sporadic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5485. en:retinal arteriolar tortuosity develops in adolescence and is progressive --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5486. en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5487. en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5488. en:risk of affected offspring in maternal translocation carrier - 4-10% --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5489. en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5490. en:see (608328) for a phenotypically similar autosomal dominant form --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5491. en:see also a childhood-onset form (114100) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also a childhood-onset form (114100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5492. en:see also cblc (277400) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also cblc (277400) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5493. en:see also dominant deb (131750), an allelic disorder with a similar phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5494. en:see also dyggve-melchior-clausen disease (223800) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5495. en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5496. en:see also junctional eb with pyloric atresia (226730) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5497. en:see also oca1a (203100) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also oca1a (203100) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5498. en:see also x-linked (310400) and autosomal dominant (160150) forms --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5499. en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5500. en:segmental distribution often affecting 1 limb --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:segmental distribution often affecting 1 limb | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5501. en:seizures may remit in adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures may remit in adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5502. en:seizures usually remit spontaneously by 12 months of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5503. en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5504. en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5505. en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5506. en:shields classification - --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:shields classification - | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5507. en:significant number of patients are stillborn or die in neonatal period --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5508. en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5509. en:six patients from 4 families have been reported (last curated january 2015) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5510. en:skewed x-inactivation in carriers --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skewed x-inactivation in carriers | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5511. en:skin erythroderma may resolve early, leaving atrophic lesions --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5512. en:skin lesions manifest in the first year of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions manifest in the first year of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5513. en:skin lesions tend to occur on distal extremities or at elbows and knees --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5514. en:sleep terrors usually remit during adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sleep terrors usually remit during adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5515. en:slow course of functional deterioration compared to severity of mri findings --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5516. en:slowly progressive or nonprogressive course --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:slowly progressive or nonprogressive course | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5517. en:some features are variable --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features are variable | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5518. en:some features are variably present --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some features are variably present | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5519. en:some females are affected --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some females are affected | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5520. en:some patients do not have bone disease --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients do not have bone disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5521. en:some patients have a crouzon-like appearance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have a crouzon-like appearance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5522. en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5523. en:some patients may develop interictal progressive ataxia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may develop interictal progressive ataxia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5524. en:some patients may die from cardiomyopathy in the first or second decade of life --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5525. en:some patients may have isolated cardiac involvement --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients may have isolated cardiac involvement | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5526. en:some patients with heterozygous mutations may be symptomatic --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5527. en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5528. en:splenectomy increases thrombotic risk in these patients --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:splenectomy increases thrombotic risk in these patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5529. en:spontaneous bleeding is rare --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:spontaneous bleeding is rare | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5530. en:sudden death due to cardiac arrhythmia may occur --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5531. en:symptoms are aggravated by febrile illness --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms are aggravated by febrile illness | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5532. en:symptoms are often responsive to alcohol --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms are often responsive to alcohol | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5533. en:symptoms are responsive to cobalamin treatment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms are responsive to cobalamin treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5534. en:symptoms benefit from sleep --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms benefit from sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5535. en:symptoms induced by strenuous exercise --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms induced by strenuous exercise | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5536. en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5537. en:symptoms often decrease or remit with age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms often decrease or remit with age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5538. en:symptoms usually resolve without treatment --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms usually resolve without treatment | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5539. en:symptoms vary according to location of tumor --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:symptoms vary according to location of tumor | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5540. en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5541. en:the characteristic changes in the spine resolve by adolescence --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5542. en:three families have been reported (last curated april 2011) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (last curated april 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5543. en:three families have been reported (last curated november 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three families have been reported (last curated november 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5544. en:three major clinical forms are apparent --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three major clinical forms are apparent | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5545. en:three patients have been reported (as of february 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been reported (as of february 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5546. en:three patients have been reported (as of november 2010) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three patients have been reported (as of november 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5547. en:three unrelated patients have been reported (last curated january 2010) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5548. en:thromboembolism is the most common cause of death --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thromboembolism is the most common cause of death | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5549. en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5550. en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5551. en:treatment with serine and glycine replacement may alleviate features if started at birth --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5552. en:tremor may be elicited by movement or postural maintenance --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:tremor may be elicited by movement or postural maintenance | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5553. en:two families have been reported (as of curation date april 2014) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two families have been reported (as of curation date april 2014) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5554. en:two fetuses have been reported (as of august 2011) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two fetuses have been reported (as of august 2011) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5555. en:two main phenotypes, severe and mild --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two main phenotypes, severe and mild | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5556. en:two patients from spain have been reported (as of january 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients from spain have been reported (as of january 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5557. en:two patients with point mutations in rad21 have been reported (last curated july 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5558. en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5559. en:two sibs, a boy and a girl, have been reported (as of july 2009) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5560. en:two subtypes - seminoma and nonseminoma --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two subtypes - seminoma and nonseminoma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5561. en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5562. en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5563. en:two unrelated families have been reported (last curated august 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5564. en:two unrelated japanese patients have been reported (last curated may 2012) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5565. en:two unrelated patients have been reported (last curated february 2015) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5566. en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5567. en:type 1 - associated with osteogenesis imperfecta (125490) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5568. en:type 2 porencephaly is usually symmetrical and results from developmental malformation --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5569. en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5570. en:uncommon and rare features seen in the most severely affected patients --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5571. en:upper limb involvement may occur later --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:upper limb involvement may occur later | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5572. en:usually lethal in the neonatal period --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually lethal in the neonatal period | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5573. en:usually no increased fragility of hair --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually no increased fragility of hair | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5574. en:usually progressive --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:usually progressive | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5575. en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5576. en:variable age at onset --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5577. en:variable age at onset (range 10 to 50 years) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range 10 to 50 years) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5578. en:variable age at onset (range infancy to late adulthood) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (range infancy to late adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5579. en:variable age at onset (usually 20 to 30 years of age) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5580. en:variable age at onset, range from infancy to adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, range from infancy to adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5581. en:variable age at onset, ranging from childhood to late adulthood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5582. en:variable age of onset (childhood to adult) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset (childhood to adult) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5583. en:variable age of onset of parkinsonism (first decade to adulthood) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5584. en:variable age of onset, from 6 to 50 years of age --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset, from 6 to 50 years of age | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5585. en:variable age of onset, ranging from 11 to 50 years --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5586. en:variable dysmorphic features --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable dysmorphic features | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5587. en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5588. en:variable expressivity in families --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable expressivity in families | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5589. en:variable frequency and severity --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable frequency and severity | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5590. en:variable neurologic phenotype --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable neurologic phenotype | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5591. en:variable neuroradiologic findings --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable neuroradiologic findings | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5592. en:variable phenotype (myotonia may or may not be present) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype (myotonia may or may not be present) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5593. en:variable phenotype (range from completely female to males with mild undermasculinization) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5594. en:variable phenotype within families ranging from woolly hair to hypotrichosis --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5595. en:variable presentation --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable presentation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5596. en:variable presentation and manifestations --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable presentation and manifestations | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5597. en:variable severity, ranging from 'typical' to 'severe' disease --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5598. en:variable survival --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:variable survival | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5599. en:vhl type 2a - hemangioblastoma and pheochromocytoma --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5600. en:visual field and color defects invariably present only in patients with advanced loss of vision --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5601. en:visual symptoms present by late childhood --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:visual symptoms present by late childhood | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5602. en:worsening of hand weakness with cold (in some) --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:worsening of hand weakness with cold (in some) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5603. rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire liée à la rhodopsine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5604. rétinopathie pigmentaire --- r_associated #0: 21 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinopathie pigmentaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
  5605. Hydramnios --- r_associated #0: 20 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Hydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=20
  5606. Malformation congénitale --- r_associated #0: 20 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Malformation congénitale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=20
  5607. Arthralgie --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Arthralgie | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5608. Douleur articulaire --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Douleur articulaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5609. Hyde (prurigo nodulaire de) --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Hyde (prurigo nodulaire de) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5610. en:hydramnion --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hydramnion | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5611. malentendant (enfant) --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malentendant (enfant) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5612. moniteur de glucose sanguin avec synthétiseur vocal intégré --- r_associated #0: 15 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=15
  5613. Malformation --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Malformation | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5614. Polyhydramnios --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Polyhydramnios | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5615. atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5616. en:cacomorphosis --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:cacomorphosis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5617. en:hypoacousic child --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:hypoacousic child | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5618. hétérozygotes asymptomatiques susceptibles à la toxicité du plomb --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5619. intolérance alimentaire --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=intolérance alimentaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5620. mortinatalité --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=mortinatalité | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5621. polyglucosanes (neuropathie à ) --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=polyglucosanes (neuropathie à ) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5622. quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5623. rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=rétinite pigmentaire (classification de Fishman) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5624. troubles congénitaux --- r_associated #0: 10 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=troubles congénitaux | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=10
  5625. Lester (signe de) --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Lester (signe de) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5626. Létal --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Létal | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5627. Maladie opportuniste --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Maladie opportuniste | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5628. Rétinite pigmentaire --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=Rétinite pigmentaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5629. disomie uniparentale --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=disomie uniparentale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5630. hydramnios aigu --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydramnios aigu | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5631. hydramnios chronique --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydramnios chronique | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5632. hydranencéphalie --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydranencéphalie | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5633. hydrargirose --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrargirose | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5634. hydrargyrie --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrargyrie | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5635. hydrargyrisme --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrargyrisme | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5636. hydratase --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydratase | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5637. hydratation cutanée --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydratation cutanée | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5638. hydrate de carbone --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrate de carbone | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5639. hydrencéphalie --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrencéphalie | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5640. hydrencéphalocèle --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrencéphalocèle | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5641. hydrine --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5642. hydroa --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydroa | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5643. hydroa aestivalis --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydroa aestivalis | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5644. hydroa vacciniforme de Bazin --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydroa vacciniforme de Bazin | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5645. hydroadénome --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydroadénome | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5646. hydrocalice --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrocalice | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5647. hydrocarboné --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrocarboné | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5648. hydrocarbure --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=hydrocarbure | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5649. malf ormation dysraphique --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malf ormation dysraphique | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5650. malformation kystique adénomatoïde du poumon --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation kystique adénomatoïde du poumon | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5651. malformation luxante de la hanche --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation luxante de la hanche | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5652. malformation mamelonnaire --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation mamelonnaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5653. malformation mammaire --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation mammaire | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5654. malformation ombilicale --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation ombilicale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5655. malformation utérine --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation utérine | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5656. malformation vaginale --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation vaginale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5657. malformation vasculaire cérébrale du nourrisson --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformation vasculaire cérébrale du nourrisson | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5658. malformations de la charnière occipitocervicale --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=malformations de la charnière occipitocervicale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5659. symptômes autonomes associés aux céphalées --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=symptômes autonomes associés aux céphalées | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
  5660. syndrome de prédisposition tumorale --- r_associated #0: 5 --> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=syndrome de prédisposition tumorale | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=5
Le service Rézo permet d'énumérer les relations existant pour un terme. Ce service est interrogeable par programme.
Projet JeuxDeMots - url: http://www.jeuxdemots.org
contact: mathieu.lafourcade@lirmm.fr