'en:no consistent dysmorphic facial phenotype'
(id=9090792 ; fe=en:no consistent dysmorphic facial phenotype ; type=1 ; niveau=200 ;
luminosité=25 ;
somme entrante=127723 creation date=2017-10-27 touchdate=2025-12-08 14:51:03.000) ≈ 6082 relations sortantes
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:asymptomatic younger patients show characteristic basal ganglia calcifications
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:autosomal dominant inheritance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:autosomal recessive inheritance has been suggested
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:based on a report of 2 unrelated saudi patients (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:both autosomal dominant and recessive inheritance can occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:both autosomal dominant and recessive inheritance can occur | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:carrier females have arthralgias in middle age
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:death by age 6-7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:death usually in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:earliest symptom onset in sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:earliest symptom onset in sixth decade of life | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:episodes last 1 to 2 days
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:episodes tend to decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:exacerbation of symptoms during or after pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:favorable response to intermittent, low-dose steroid therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:fractures occur in first few months, then decrease in frequency and then occur with ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:lifelong occurrence
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:loss of independent walking by teenage years (in some)
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:major fetal plasma protein produced by yolk sac and liver
n1=en:no consistent dysmorphic facial phenotype | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:mental retardation likely secondary to neonatal hypoxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:most patients do not learn to sit or walk
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:most patients present in infancy with anemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:occurs in full-term newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:one family of french-canadian origin has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:onset before adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:onset between 28 and 42 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:onset between 6 and 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:possible defect of a specific lipase in the pathway of free fatty acid oxidation
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:possible x-linked dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:prenatal or perinatal death
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:presentation in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:seizures are easily controlled by medications
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:skin lesions are primarily trauma-induced but occasionally appear spontaneously
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:some features are variably present
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features are variably present | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used
n1=en:no consistent dysmorphic facial phenotype | n2=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:some patients are clinically unaffected.
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:some patients have only ocular involvement or only oral involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:spinal involvement improves with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:telangiectases persist in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:three unrelated patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:two families have been reported (as of june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:two unrelated patients have been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 43 / 1 ->
en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=43
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:50% of cases are de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:75% of affected individuals are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:age of onset 20-65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:all reported mutations have occurred de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:allelic disorder to infantile neuroaxonal dystrophy (256600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:ambulation is preserved
n1=en:no consistent dysmorphic facial phenotype | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:based on one finnish family
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:carrier males are unaffected except for psychiatric/behavioral abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:caused by inheritance of the mutation on the paternal allele (imprinting)
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations
n1=en:no consistent dysmorphic facial phenotype | 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=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:considered a myeloproliferative disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:death may occur in late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:death secondary to respiratory infection or failure before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:disease steadily progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease steadily progressive | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:encephalopathic episodes associated with increased serum and csf lactate
n1=en:no consistent dysmorphic facial phenotype | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:facial dysmorphic features may not be present and may become less apparent in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:favorable response to immunotherapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:favorable response to l-dopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:four unrelated patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:genetic heterogeneity (see 116800 for summary)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:genetic heterogeneity (see 605407)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:highly variable phenotype with regard to pigmentation
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:hip replacement in early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:incidence 1 in 30,000 male births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:incidence of 1 in 100 in some local nordic areas
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:later onset of hearing loss in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
n1=en:no consistent dysmorphic facial phenotype | 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=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:mosaic distribution of lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:non-progressive and more severe progressive forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:occurs most often among black africans
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:one family reported (as of november 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:one family with 3 affected individuals has been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 3 affected individuals has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:one patient died at age 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:one patient has been reported (as of sept 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset age 14-28 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset between ages 10 and 25 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset in first decades (males)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset in second to third decades (postlingual)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset in utero, infancy, or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset of ataxia between 1 and 3 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset of optic neuropathy is usually in early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset of seizures before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset of seizures ranges from 2 to 11 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:onset of sensory neuropathy in later adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:phenotypic overlap with revesz syndrome (268130)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:prevalence 1 in 8000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:relief is achieved by cooling or by elevating the extremities
n1=en:no consistent dysmorphic facial phenotype | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:see also da2b (601680), which is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:see also recessive deb (226600), an allelic disorder with a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:seizures usually occur in the first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:some features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features are variable | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:symptom onset ranges from infancy to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:treatment with riboflavin has been helpful in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with riboflavin has been helpful in some patients | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
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:no consistent dysmorphic facial phenotype | 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=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:variable facial dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:variable features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable features | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 42 / 0.977 ->
en:variable response to vitamin b12 therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=42
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:accounts for approximately 5% of the epilepsies
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:acute neurologic deterioration after viral illness has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:adult-onset is referred to as small fiber neuropathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:age of onset 5 to 22 years (mean 6.9)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:allelic disorder to juvenile nephronophthisis-1 (256100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:atypical affected males, 'cardiac variants' 301500.0005 exist
n1=en:no consistent dysmorphic facial phenotype | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:based on 1 uruguayan family (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:based on report of 1 large dutch pedigree (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 large dutch pedigree (last curated july 2015) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:congenital onset or onset before 2 years (prelingual)
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:congenital reduction in visual acuity is nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital reduction in visual acuity is nonprogressive | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:corneal diameter decreases with decreasing axial length
n1=en:no consistent dysmorphic facial phenotype | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:death at 13 to 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:dysmorphic features may be subtle
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic features may be subtle | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:earliest age of onset 12 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:earliest age of onset 12 years of age | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:episodic
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodic | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:eye and vestibular findings were found in some members of one family
n1=en:no consistent dysmorphic facial phenotype | n2=en:eye and vestibular findings were found in some members of one family | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:features occur episodically
n1=en:no consistent dysmorphic facial phenotype | n2=en:features occur episodically | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:fracture frequency constant through childhood, decreases after puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:genetic heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:genetic heterogeneity (see 192600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:increased prevalence in individuals of jewish-iraqi origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:levodopa-induced dyskinesias
n1=en:no consistent dysmorphic facial phenotype | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:massive aortic aneurysm can cause airway compression in affected infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2
n1=en:no consistent dysmorphic facial phenotype | 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=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:most cases result from de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:no situs inversus
n1=en:no consistent dysmorphic facial phenotype | n2=en:no situs inversus | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:ocular abnormalities may be very mild
n1=en:no consistent dysmorphic facial phenotype | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:one family with 3 affected males has been reported (as of october 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
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:no consistent dysmorphic facial phenotype | 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=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:only apparent in patients taking eculizumab
n1=en:no consistent dysmorphic facial phenotype | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:onset at 6-36 hours of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:onset early in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:onset in late childhood or adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:rapidly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:see also griscelli syndrome type 2 (607624) for a similar disorder with characteristic immunologic abnormalities and
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also griscelli syndrome type 2 (607624) for a similar disorder with characteristic immunologic abnormalities and | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:seizures and cognitive involvement are variable findings
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:seizures remit by age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:some familial occurrence, most de novo aberrations
n1=en:no consistent dysmorphic facial phenotype | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:some features not found in all patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features not found in all patients | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:some patients have persistence of seizures to adulthood, but then show remission
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:some patients may show normal early development before seizure onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features
n1=en:no consistent dysmorphic facial phenotype | n2=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:susceptibility to infections starts in the first week of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:thorax anomaly ameliorates with age (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:torso and upper body remain normal in shape and contour
n1=en:no consistent dysmorphic facial phenotype | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:trauma, anxiety, and/or stress can precipitate or aggravate edema
n1=en:no consistent dysmorphic facial phenotype | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1
n1=en:no consistent dysmorphic facial phenotype | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:two unrelated men have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated men have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:two unrelated patients have been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:typically no physical features of albright hereditary osteodystrophy (aho)
n1=en:no consistent dysmorphic facial phenotype | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 41 / 0.953 ->
en:variable age at onset of symptoms (from childhood to the sixth decade of life)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | rel=r_associated | relid=0 | w=41
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide
n1=en:no consistent dysmorphic facial phenotype | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
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:no consistent dysmorphic facial phenotype | 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=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:additional developmental abnormalities may be seen in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:adult onset after puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:age at onset ranges from 50 to 70 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:age of onset ranges from 1 to 47 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:autosomal recessive cases have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:birth incidence approximately 5.1 per million live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:birth incidence approximately 5.1 per million live births | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:deafness is presenting symptom
n1=en:no consistent dysmorphic facial phenotype | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:diurnal fluctuation
n1=en:no consistent dysmorphic facial phenotype | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:extrapyramidal signs show a favorable response to levodopa
n1=en:no consistent dysmorphic facial phenotype | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:favorable response to sodium chloride treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:female carriers may have mild hearing impairment
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:female carriers may have mild hearing impairment and/or mild signs of choroideremia
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:fetal death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:fetal death may occur | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:fever of unknown origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:genetic heterogeneity (see bscl1, 608594)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:gms is goniodysgenesis, mental deficiency, and short stature
n1=en:no consistent dysmorphic facial phenotype | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:health insurance plan benefits comment:finding:point in time:^patient:narrative
n1=en:no consistent dysmorphic facial phenotype | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:hearing loss may vary in severity and range between ears
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss may vary in severity and range between ears | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:internal organ rupture may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:l-dopa-induced dyskinesias
n1=en:no consistent dysmorphic facial phenotype | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:lifetime risk of breast cancer in male mutation carriers in 6%
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:mean age at diagnosis 8.8 years (range 0.2-23 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:most patients become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset in infancy or in the first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or in the first months of life | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second decade | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset of hearing loss in late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset of overgrowth in second to third month of life (in some cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of overgrowth in second to third month of life (in some cases) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset of symptoms in second or third decade (mean 25 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:onset usually in childhood after bcg vaccination
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood after bcg vaccination | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:patients with atypical form have milder disease, with onset in the first months of life and increased survival
n1=en:no consistent dysmorphic facial phenotype | 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=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:presentation after 18 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:prevalence of 1 in 240 zuni indians
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:prevalence of 2-7% in english-speaking preschool children
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:reported in individuals of jewish moroccan ancestry
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:slowly or nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:some patients do not develop stroke
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:time of analysis:tmstp:pt:xxx:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:two unrelated patients have been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:variable age at onset, from birth to ninth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 40 / 0.93 ->
en:variable severity that correlates with rate and magnitude of neuronal protein accumulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=40
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:40 patients in 16 dominant kindreds reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:adult onset (20 to 40 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
n1=en:no consistent dysmorphic facial phenotype | 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=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:autosomal recessive cytochrome b-negative cgd (233690)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:based on report of 1 family (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family (last curated december 2015) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:blistering and erosions tend to occur on extensor surfaces or over bony prominences
n1=en:no consistent dysmorphic facial phenotype | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
n1=en:no consistent dysmorphic facial phenotype | 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=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:cardiac examination is usually unremarkable
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:date of analysis:tmstp:pt:xxx:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:death before age 40
n1=en:no consistent dysmorphic facial phenotype | n2=en:death before age 40 | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:described predominantly in families from the philippines
n1=en:no consistent dysmorphic facial phenotype | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:diagnosis made if 3/7 defects are present
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:dysmorphic features were only reported in 1 patient
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
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:no consistent dysmorphic facial phenotype | 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=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:episodes brought on by fasting or infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:episodes typically last 2 to 5 minutes and occur daily or several times per month
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:food related behavioral problems include excessive appetite and obsession with eating
n1=en:no consistent dysmorphic facial phenotype | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:frequency of episodes ranges from several per week to several per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:generally static disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:generally static disease course | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:good response to clonazepam
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:incidence in the finnish population of 0.2-1.3 cases per million per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:individuals with the pcs trait are phenotypically normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:intrafamilial variability in degree of hypotrichosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
n1=en:no consistent dysmorphic facial phenotype | 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=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:mean age at diagnosis 16 years (range 6 to 22)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:mean age at onset 32 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:mean age at onset of bone fractures, 24 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:median age at onset 23 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:midline defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:midline defects | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:movements worsened by anxiety
n1=en:no consistent dysmorphic facial phenotype | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:nail changes may be intermittent in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:normal in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:occurs on right side in 75% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:one 9-generation family and 1 isolated patient described (last curated march 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:one family described (last curated october 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family described (last curated october 2013) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:one patient with unrelated german parents has been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with unrelated german parents has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset between 34 and 51 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset in childhood (range 1 to 9 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset in infancy (first hours to weeks of life)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset in late infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset of cardiomyopathy may occur several months after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset of proteinuria in the third to fourth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset of symptoms in fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:onset usually in the third decade (range 11 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:overlapping features with barber-say syndrome (209885)
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:patients may have either dementia or motor neuron disease or both
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have either dementia or motor neuron disease or both | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:physical features are apparent at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:presence of additional features is variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:prevalence in caucasians is 1 in 1,000,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:prevalence of 1 in 3,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations
n1=en:no consistent dysmorphic facial phenotype | 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=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:reported in a large hutterite family
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:short limbs become more apparent during childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:slowly progressive disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:some patients have no clinical symptoms and are detected by routine newborn screening
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:symptoms usually last 30-60 minutes
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two families have been reported (as of curation date april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two families have been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two siblings of consanguineous turkish parents have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two siblings of consanguineous turkish parents have been reported | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two sibs have been reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two unrelated patients have been reported (as of june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:two unrelated patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:unusual cabbage-like odor
n1=en:no consistent dysmorphic facial phenotype | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 39 / 0.907 ->
en:variable heat tolerance
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=39
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:allelic to senior-loken syndrome 4 (606996)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:associated with a balanced translocation t(12,22)(p11.2,q13.3)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:autosomal dominant transmission has been rarely reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands
n1=en:no consistent dysmorphic facial phenotype | 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=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:based on report of 3 unrelated patients (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 3 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:based on report of one 5-generation family (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of one 5-generation family (last curated december 2015) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:blood glucose monitor with integrated lancing/blood sample
n1=en:no consistent dysmorphic facial phenotype | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:clinical presentation varies
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:de novo mutation in some cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation in some cases | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:death in first days or months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in first days or months of life | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:death in first weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:early death (usually by 3 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:exacerbations during infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy
n1=en:no consistent dysmorphic facial phenotype | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:genetic heterogeneity (see npc2, 607625)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:global developmental delay
n1=en:no consistent dysmorphic facial phenotype | n2=en:global developmental delay | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:highly variable phenotype with respect to facial dysmorphism and neurologic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:incidence of 1 in 100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:increasing hypertension with increasing age
n1=en:no consistent dysmorphic facial phenotype | n2=en:increasing hypertension with increasing age | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:mean age at onset 16.5 years (range 9 to 35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:minimum duplication includes bhlha9 (615416)
n1=en:no consistent dysmorphic facial phenotype | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:most common form of congenital methemoglobinemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:most frequently affected joints - hands (98%) and feet (88%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:most patients become wheelchair-bound in adolescence or as young adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:most patients have contiguous gene deletion syndrome involving xp22
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have contiguous gene deletion syndrome involving xp22 | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:nine patients have been reported in detail (as of 14 june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:no cardiac or immune defects in patients from the 2 reported families
n1=en:no consistent dysmorphic facial phenotype | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:one boy and 5 unrelated girls have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:one consanguineous senegalese family has been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:one swiss family with 19 affected individuals has been described (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:onset before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:oral supplementation with ubiquinone does not result in major clinical improvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:ossification evident 2-8 months following swelling
n1=en:no consistent dysmorphic facial phenotype | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:prevalent in sweden
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:relatively slow progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:risk of sudden death due to cardiac arrhythmias
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:see also dyssegmental dysplasia, silverman-handmaker type (224410)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:severe phenotype onset - neonate
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:skin erythroderma may resolve early, leaving atrophic lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life
n1=en:no consistent dysmorphic facial phenotype | 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=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:three out of 4 reported patients died (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three out of 4 reported patients died (last curated may 2014) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:triggers are variable, even within a family
n1=en:no consistent dysmorphic facial phenotype | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:two consanguineous turkish families have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:variable phenotype within families ranging from woolly hair to hypotrichosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 38 / 0.884 ->
en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=38
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:allelic to birt-hogg-dube syndrome (135150)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:average onset of seizures 6 months (range 3-12)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:based on the report of one consanguineous pakistani family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on the report of one consanguineous pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
n1=en:no consistent dysmorphic facial phenotype | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:cutaneous symptoms induced by cold exposure or cooling
n1=en:no consistent dysmorphic facial phenotype | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:death occurs in second or third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:death often before age 2
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:fasting status:prthr:pt:^patient:ord:reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:fasting status:prthr:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:favorable response to treatment with cholinesterase inhibitors or amifampridine
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:female carriers may develop mild hearing loss as adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:highly variable phenotype and severity, even within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:improvement of abnormal muscle biopsy and cox deficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:intrafamilial phenotypic variation may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:juvenile absence epilepsy (jae, 607631)
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)
n1=en:no consistent dysmorphic facial phenotype | 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=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:leakage of fluid ('gusher') if the stapes is disturbed
n1=en:no consistent dysmorphic facial phenotype | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:liver functions return to normal after 3 to 4 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
n1=en:no consistent dysmorphic facial phenotype | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
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:no consistent dysmorphic facial phenotype | 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=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:normal sweat electrolytes
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:occasional adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa
n1=en:no consistent dysmorphic facial phenotype | 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=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:one consanguineous family has been reported (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:one patient has been reported (as of may 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:only individuals homozygous for risk or non-risk alleles were studied
n1=en:no consistent dysmorphic facial phenotype | n2=en:only individuals homozygous for risk or non-risk alleles were studied | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:onset after age 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset after age 20 years | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:onset in first or second decade (range 4 to 13 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:onset in utero or in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:onset of hearing loss in late childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:onset prenatally or at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
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:no consistent dysmorphic facial phenotype | 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=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:patients may become wheelchair-bound after about 12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:penetrance 86% by 50 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap
n1=en:no consistent dysmorphic facial phenotype | n2=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:prevalence of 1 in 40,000 among caucasians
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:prevalence of 19 in 1,000,000 in sweden
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:retinal hemorrhages usually resolve without sequelae
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:scalp hair quality improves during pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:see also adult-onset stiff person syndrome (184850)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:see also chromosome 2q32-q33 deletion syndrome (612313)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:skin lesions on back, face, nape of neck, and waist tend to be mild
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions on back, face, nape of neck, and waist tend to be mild | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:some patients may die from cardiomyopathy in the first or second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:spectrum of laterality defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:spectrum of laterality defects | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:spontaneously resolves by 5 to 6 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:symptoms may be exacerbated by pregnancy or trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:three families have been reported (last curated april 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:two japanese patients have been reported (last curated march 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:two subtypes - seminoma and nonseminoma
n1=en:no consistent dysmorphic facial phenotype | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:type i is infantile-onset, severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:variable age at onset (range late infancy to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:variable phenotype depending on residual enzyme activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 37 / 0.86 ->
en:vhl type 2a - hemangioblastoma and pheochromocytoma
n1=en:no consistent dysmorphic facial phenotype | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=37
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:'shoulder' pattern of temperature-dependent potassium flux (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma
n1=en:no consistent dysmorphic facial phenotype | n2=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:acral hemorrhagic variant
n1=en:no consistent dysmorphic facial phenotype | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:allelic disorder to spastic paraplegia-3 (spg3, 182600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:allelic with cone-rod dystrophy 10 (610283)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:approximately half of cases are due to unbalanced rearrangements, which may be familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:characteristic facial features become more apparent with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:communication board, non-electronic augmentative or alternative communication device
n1=en:no consistent dysmorphic facial phenotype | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:complete recovery upon treatment of hyperthyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:distinct disorder from galactosemia (230400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:family history of sudden death, as early as fourth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:fatal without lung transplant
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:female predominance (4:1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:females carriers have more variable age at onset and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:females tend to have earlier onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:genetic anticipation has been observed
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:genetic heterogeneity (see cmt4b2, 604563)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:highly variable phenotype and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:incidence 1/1,200-1/15,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:incidence 8/1,000 newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:liver failure episodes associated with fever
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver failure episodes associated with fever | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:majority of cases are sporadic, often in tall, thin men
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:males are more severely affected than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:may manifest as 'ataxic' phenotype without parkinsonian features
n1=en:no consistent dysmorphic facial phenotype | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:multiple prenatal fractures
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:no recurrence of nephrotic syndrome after transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:no recurrence of nephrotic syndrome after transplantation | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:obligate female carriers may show mild signs of muscle weakness, especially of the face
n1=en:no consistent dysmorphic facial phenotype | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:often refractory to medical therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset in early childhood (age 3)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset of bleeding in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset of symptoms in first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset of symptoms often associated with nonspecific febrile illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset usually in first or second decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:onset within first 3 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:pancreatic endocrine abnormalities reported in 1 family only
n1=en:no consistent dysmorphic facial phenotype | n2=en:pancreatic endocrine abnormalities reported in 1 family only | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:patient with truncating mutations are more likely to develop neurologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:patients with adult onset present with psychiatric features
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:periventricular heterotopia (300049) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:possible x-linked inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:progressive deafness
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive deafness | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:reduced fertility
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced fertility | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)
n1=en:no consistent dysmorphic facial phenotype | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:reported in 1 family (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:see also dent disease 2 (300555)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:severity of phenotype may vary with x-inactivation patterns and/or mutation type
n1=en:no consistent dysmorphic facial phenotype | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:survival to 20s-60s in iib
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:types of psoriasis include - plaque, guttate, erythrodermic, pustular
n1=en:no consistent dysmorphic facial phenotype | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:variable frequency (daily to monthly)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:variably expressivity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variably expressivity | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 36 / 0.837 ->
en:wasting of the hands is the first and most prominent manifestation
n1=en:no consistent dysmorphic facial phenotype | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=36
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74)
n1=en:no consistent dysmorphic facial phenotype | n2=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:(1) infantile nephropathic (219800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:20% die before age one (usually secondary to renal or laryngeal defects)
n1=en:no consistent dysmorphic facial phenotype | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:21 patients from 17 kindreds reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)
n1=en:no consistent dysmorphic facial phenotype | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:99+% of the mutations are fgfr3, g380r (134934.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:a pair of monozygotic twins have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:a pair of monozygotic twins have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:a subset of patients improve with thiamine
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:a wnt3 mutation has been identified in 1 affected family
n1=en:no consistent dysmorphic facial phenotype | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:abnormal sensitivity to therapeutic radiation
n1=en:no consistent dysmorphic facial phenotype | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:about 25% of cases due to new mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:accounts for <2% of patients with alzheimer's disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:accounts for 5-15% of childhood epilepsies
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:acquired autoimmune disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:acral form of skin peeling limited to hands and feet (609796)
n1=en:no consistent dysmorphic facial phenotype | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult onset - 100-1,000 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult onset (mean 30 years, range 5-60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult onset (wide range of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult onset has been rarely reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:adult-onset (range early twenties to forties)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult-onset (range early twenties to forties) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:affected females may have increased spontaneous abortions
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:affected males are all result of new mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age at diagnosis of cataract may range up to 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age at onset from 3 to 51 years (mean 19.2 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age at onset most often in childhood (first decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age of onset 1 to 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age of onset 28 to 70 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:age-dependent penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:aggressive malignancies
n1=en:no consistent dysmorphic facial phenotype | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:all cases have been sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:all cases have been stillborn or immediate neonatal death
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:all reported cases have de novo mutations (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:all reported cases result from de novo mutation (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder is long qt syndrome-3 (lqt3, 603830)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to benign hereditary chorea (118700), which is less severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to nieman-pick disease type b (607616)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorder to opitz-kaveggia syndrome (305450)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to bardet-biedl syndrome 6 (209900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to deafness, autosomal recessive 23 (609533)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to multiple pterygium syndrome, lethal type (253290)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:allelic to several forms of autosomal recessive cmt (see 214400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:alopecia usually occurs around puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:anemia, diabetes, and deafness often show onset at different ages
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:antibodies can develop after pregnancy or transfusion
n1=en:no consistent dysmorphic facial phenotype | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:approximately 12 patients have been reported (as of march 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:approximately 50db loss in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:approximately 70-80% of cases are de novo and sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:associated with iron deficiency anemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:associated with smoking
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with smoking | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:ataxia is nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:attacks may present during or after sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:attacks triggered by catabolic stress, such as fever or illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:autosomal dominant with incomplete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:autosomal recessive cytochrome b-positive cgd, type ii
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:autosomal recessive inheritance (245600) has also been suggested
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:autosomal recessive inheritance has been described in 2 families
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:average age at onset 19 years (range 5 to 38)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on 1 reported family with oca6
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on 1 reported patient (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on 2 patients with p4hb mutations (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 patients with p4hb mutations (last curated april 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on 2 siblings in a consanguineous family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 siblings in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on one consanguineous palestinian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one consanguineous palestinian family (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on one large dutch family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on report of 2 affected brothers in 1 family (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on report of 2 unrelated patients (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 unrelated patients (last curated may 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on report of 4 patients from 1 family (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:based on reports of one family and one patient (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on reports of one family and one patient (last curated december 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:blindness episodes are not associated with fhm episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:blistering becomes confined to the palms and soles with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:blistering may worsen during the summer
n1=en:no consistent dysmorphic facial phenotype | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:blistering tends to improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:bone fragility is not apparent at birth, but becomes evident within several months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:bone fragility is not apparent at birth, but becomes evident within several months of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:both autosomal dominant and autosomal recessive inheritance have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia
n1=en:no consistent dysmorphic facial phenotype | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found
n1=en:no consistent dysmorphic facial phenotype | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:both heterozygous and homozygous mutations have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:both recessive and dominant inheritance have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:broad range in severity of presentation in sibships
n1=en:no consistent dysmorphic facial phenotype | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:can be slowly or rapidly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:can be treated by bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:cardiomyopathy is not a feature
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:carrier males are fertile
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier males are fertile | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:central hypoventilation occurs late in the disease and is often fatal
n1=en:no consistent dysmorphic facial phenotype | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:characteristic face and body by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:childhood onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:childhood onset rarely occurs
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product
n1=en:no consistent dysmorphic facial phenotype | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:citation:bib:pt:reference lab test:nar
n1=en:no consistent dysmorphic facial phenotype | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:classic severe form shows onset at 2 to 3 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:clinical severity varies
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:clinical variation
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical variation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:clonidine can alleviate hyperhidrosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
n1=en:no consistent dysmorphic facial phenotype | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:cold-induced sweating develops late in the first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:common (up to 7% of the population)
n1=en:no consistent dysmorphic facial phenotype | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:complicated and pure forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:cone-shaped epiphyses usually not present before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:considered to be a severe form of gaucher disease type ii (230900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:contiguous gene deletion syndrome (in most patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:d-hus is usually familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:de novo mutation (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation (in some patients) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death due to respiratory failure or infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in childhood may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in childhood occurs without bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood occurs without bone marrow transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in childhood secondary to malabsorption
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in early childhood has been reported in some presumed homozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in first-second decade of life secondary to cardio-respiratory compromise
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in fourth to fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in infancy (1 patient)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in infancy in majority of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in perinatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death in third or fourth decades, usually due to respiratory infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death occurs 10 to 20 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death occurs before 12 months of age due to cardiorespiratory arrest
n1=en:no consistent dysmorphic facial phenotype | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death often in the teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death usually due to renal failure by average age 3
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death usually in the perinatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death usually occurs in first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death within 6 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:death within several months if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:decrease in frequency and severity of episodes in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:decrease in frequency and severity of episodes in young adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
n1=en:no consistent dysmorphic facial phenotype | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:described in families from galicia, spain
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:described in families from western japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:described in individuals of jewish bukharian descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:development of afebrile seizures later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:diabetes mellitus diagnosed between third and fifth decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diabetes mellitus diagnosed between third and fifth decades of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:dip is a pathologic diagnosis that may represent other disease entities
n1=en:no consistent dysmorphic facial phenotype | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:disease course depends on age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:distinct disorder from familial erythrocytosis (ecyt1, 133100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:distinct disorder from familial limb-girdle myasthenia (254200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:distinct from pseudopili annulati (613241)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:diurnal fluctuation, more apparent in earlier years, later subsides
n1=en:no consistent dysmorphic facial phenotype | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:dopa-unresponsive
n1=en:no consistent dysmorphic facial phenotype | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:duane anomaly is not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:dwarfism not detectable at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:dysmorphic facial features may not be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:earlier onset associated with faster progression and shorter life span
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early childhood onset (before age 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early death due to sepsis
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early death in patients with cloverleaf skull
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early death may occur due to infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early death may occur without bone marrow transplant
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death may occur without bone marrow transplant | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early death without bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early exhaustion on exertion
n1=en:no consistent dysmorphic facial phenotype | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early lethality
n1=en:no consistent dysmorphic facial phenotype | n2=en:early lethality | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early onset, between 35-60 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:early-onset severe renal disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:elevated body temperatures to 42 degrees celsius
n1=en:no consistent dysmorphic facial phenotype | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:end-stage renal failure in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:endocrine defects evolve over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:epiphyseal stippling is gone by 8 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:episodes last about 1.5 hours
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:estimated carrier frequency in charlevoix-saguenay region is 1/22
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:estimated incidence of 1 in 17,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:estimated mutation carrier rate of 1 in 350
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:exacerbation following stress, decreased food intake, or alcohol use
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:extreme sensitivity to chemotherapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:extreme sensitivity to chemotherapy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:familial form - constitutional deficiency of vwf-cleaving protease
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:families a and b had a more severe phenotype resulting in death in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:families a and b had a more severe phenotype resulting in death in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:fatigue
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatigue | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:favorable response to clonazepam
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:females are most often affected, but rare male cases have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:fifty percent of cases secondary to new mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
n1=en:no consistent dysmorphic facial phenotype | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:first name:pn:pt:^guardian or legally authorized representative:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:five unrelated cases have been reported (as of march 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:five unrelated patients have been reported (nov. 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:flunarizine treatment may be beneficial
n1=en:no consistent dysmorphic facial phenotype | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:following fever in infancy, muscular weakness and poor growth
n1=en:no consistent dysmorphic facial phenotype | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:foot deformities are present in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:four clinically indistinguishable biochemically distinct forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:four patients have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:four patients have been reported (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:four patients reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:frequency between 1 in 58,000 to 1 in 1,000,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:gastric suction pump, home model, portable or stationary, electric
n1=en:no consistent dysmorphic facial phenotype | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:gene frequency in northwest puerto rico 1 in 18
n1=en:no consistent dysmorphic facial phenotype | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic anticipation
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see 161400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see 161800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see 608638)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see cmt4a 214400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see ebn2 121201, ebn3 608217)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity (see rmd, 606072)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:genetic heterogeneity, see fhm1 141500
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:good response to levodopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to levodopa treatment | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:gradual progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:gradual progression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:group b, found in france and united kingdom, severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:hair may normalize at puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:hearing loss is usually severe by age 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:hearing loss occurs in late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:heterozygotes have mild, transient hypothyroidism in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:heterozygous females more mildly affected than hemizygous males
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high disease prevalence among french-canadians
n1=en:no consistent dysmorphic facial phenotype | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high early mortality rate if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high frequency in japan (2 in 20,000, 0.1%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high frequency of levodopa-induced dyskinesias
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high mortality in infancy and early childhood (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:high occurrence of de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:highest incidence in men of european descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:highly variable clinical phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:highly variable intrafamilial expression
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable intrafamilial expression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:highly variable intrafamilial severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:highly variable phenotype and age of onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
n1=en:no consistent dysmorphic facial phenotype | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:homo sapiens do not have a functional l-gulonolactone oxidase gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:homozygotes have earlier onset and a more severe disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:hyperkeratosis often present at birth but may appear later
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:immunodeficiency is progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incidence 1 in 300,000 in japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incidence, 1 in 650-1000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incomplete penetance of some features
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incomplete penetrance (50%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incomplete penetrance (as low as 30% in some cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:incomplete penetrance with 45 to 51 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased frequency among individuals of ashkenazi jewish descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency among individuals of ashkenazi jewish descent | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased frequency in the dariusleut hutterites (canada)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased paternal age
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased paternal age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased penetrance of phenotype when there is maternal transmission of the mutant allele
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased risk of post-splenectomy thrombotic complications (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of post-splenectomy thrombotic complications (in some patients) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:infants occasionally mistaken as having down syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:insidious onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:insidious onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:juvenile rigid early-onset form more often paternally inherited
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca
n1=en:no consistent dysmorphic facial phenotype | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:laboratory director name:pn:pt:provider:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:lack of treatment results in early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:leg pain during childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:lesions apparent at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:less than 20% have onset at 18 years of age or less (dominant and recessive)
n1=en:no consistent dysmorphic facial phenotype | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:limited clinical information provided on patients with bbs7 mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:liveborn often die within first week of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:loss of tumor suppressor gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:lower limb weakness is presenting feature
n1=en:no consistent dysmorphic facial phenotype | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:lymphedema resolves by age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:lymphedema that presents at puberty is called meige disease (153200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:male infertility
n1=en:no consistent dysmorphic facial phenotype | n2=en:male infertility | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:male predominance
n1=en:no consistent dysmorphic facial phenotype | n2=en:male predominance | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:males are more commonly affected than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:manifestations continue to appear until 5th decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:many patients lose independent mobility after 25 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:marked phenotypic variability, even within an individual
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:maternal breast milk is protective
n1=en:no consistent dysmorphic facial phenotype | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:maternal oligohydramnios
n1=en:no consistent dysmorphic facial phenotype | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:may be seen with other forms of cancer in a family
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be seen with other forms of cancer in a family | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:may occur in adults (also in pregnancy)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:may present in infancy with episodes of severe metabolic decompensation
n1=en:no consistent dysmorphic facial phenotype | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:may progress to other body regions after many years
n1=en:no consistent dysmorphic facial phenotype | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:may result in early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:may result in early death | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age at onset 12.5 years (range 2 to 15 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age at onset is 13 years (range 6 to 43)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age at onset of migraines is 42 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age at termination 3 to 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age of diagnosis is 40 years (range 11 to 79 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mean age of diagnosis of renal cell carcinoma is 46 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mecp2 mutations are those found in females with rett syndrome (312750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:median onset of neurologic symptoms is 13 years (range 5 to 28)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:median onset of proteinuria is 18 years (range 10 to 21)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:median survival is > 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:melnick-needles syndrome (mns, 309350) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mild disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mode of inheritance is uncertain
n1=en:no consistent dysmorphic facial phenotype | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out
n1=en:no consistent dysmorphic facial phenotype | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:more frequent in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:more frequent in females | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most affected patients die in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most become wheelchair-bound late in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most common cancer in men aged 15-40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most common disorder of fatty acid oxidation (1/13,000 births)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most common form of bowel obstruction in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most common subtype of frontotemporal dementia (600274)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most patients become wheelchair-bound in later childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most patients die in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most patients lose ambulation 2 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most patients require liver transplantation within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:most types show autosomal dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mulibrey is an acronym (muscle, liver, brain, and eyes)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:multiorgan failure may result from hs
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mutation in rp9 gene in family (607331.0001) likely not pathogenic
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:mutations have been identified in spanish families
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutations have been identified in spanish families | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:nails appear normal at birth, with dystrophic changes developing within the first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:nearly 100% penetrance by 60 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neonatal onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neonatal sepsis
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neurologic signs last hours to days
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neurologic signs may not be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neurologic signs onset during adolescence or young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:neuromuscular forms can present as perinate, infant, child, or adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:ninety percent of cases are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:no family history of
n1=en:no consistent dysmorphic facial phenotype | n2=en:no family history of | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:no features consistent with cystic fibrosis found in these patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:no opportunistic infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:no predisposition to skin tumor development
n1=en:no consistent dysmorphic facial phenotype | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:no skin abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:no skin abnormalities | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:nonprogressive hepatic form is less frequent
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:normal alleles contain 6 to 28 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:normal development until onset of seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:normal fertility
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal fertility | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
n1=en:no consistent dysmorphic facial phenotype | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:often associated with chiari type i malformation (cm1, 118420)
n1=en:no consistent dysmorphic facial phenotype | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:often confused with tuberous sclerosis (191000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:often presents with cranial or cervical involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one consanguineous arab family has been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous arab family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one consanguineous italian family has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous italian family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one consanguineous moroccan family has been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one consanguineous tunisian family has been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous tunisian family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family from punjab, india has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family has been reported (last curated june 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family of sicilian origin has been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of sicilian origin has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family reported (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one han chinese family and one german family have been described (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one han chinese family and one german family have been described (last curated april 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one japanese family has been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one large swedish family has been reported (as of april 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one likely consanguineous turkish family has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one of the 2 most common forms of oca in the world along with oca1
n1=en:no consistent dysmorphic facial phenotype | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one pakistani family has been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient has been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient has been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient has been reported (last curated november 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient reported with col3a1 mutation (120180.0020)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one patient with episodic ataxia and later onset has been reported (as of june 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:one six-generation family from northern china has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one six-generation family from northern china has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:only 13% develop hypertension at 18 years of age or less
n1=en:no consistent dysmorphic facial phenotype | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset 1-70 years of age (95% by early 50's)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset 5-30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset 50 to 65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset 7 to 15 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset 8-20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset and diagnosis may occur later (after age 20 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset at birth or in first days or life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset before age 20
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset between 3 and 6 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset between 6 and 14 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset between 6 and 9 months after normal early development
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset between ages 1 to 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset bimodal, ages 16-22 and ages 57-60
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in childhood (range infancy to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in childhood (usually before age 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in early childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in early first decade, although some patients have onset at birth or early in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in first 2 decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in first 6 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in first 8 weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in first few years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in first or second decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in infancy (1-2 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in middle age (44 to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in second or third decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in second to fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in teens or early twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teens or early twenties | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in third to fifth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in third to fifth decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset in young adulthood or adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset occurs earlier in males than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of alopecia in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of ataxia in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of ataxia in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of autoinflammation in infancy or first few years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of bone fragility in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of choreoathetosis in childhood or young adult (6-23 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of crises in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of deafness and diabetes in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of disease 7 months to 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of disease between 25 and 40 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of dysmorphic features and developmental delay in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of hearing loss in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of hearing loss prior to or during adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of hypoglycemia and hyperinsulinism in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of lipodystrophy later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of lymphedema around puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of mental impairment in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of motor disturbances in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of overgrowth in the first year of life (in most cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of renal dysfunction in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of seizures at 2-8 days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of symptoms less than one year
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of thrombocytopenia in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset of tumors usually in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset soon after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually after viral-like infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually associated with febrile illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in childhood (range 17 months to 39 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in early childhood (but can range from infancy to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in early childhood (but can range from infancy to adulthood) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in first month of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in first to third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in mid-teens, average 15 years (range 2 to 20 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset usually in second decade of life, although earlier and later onset have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:onset within the first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:overlap with tourette syndrome (137580)
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:overlapping features of digeorge syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pain tends to occur later in the day
n1=en:no consistent dysmorphic facial phenotype | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:part of 'dent disease complex'
n1=en:no consistent dysmorphic facial phenotype | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:partial or absent response to steroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:partial or absent response to steroid treatment | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:partially responsive to laser treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients achieve ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients are severely disabled as adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients can have multiple seizure types
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients do not exhibit ophthalmoplegia
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients may be asymptomatic, but are at risk for metabolic decompensation
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients may show both optic neuropathy and dystonia or only 1 disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients often require cardiac transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often require cardiac transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients with mutation in the nhlrc1 gene have slightly longer survival
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients with recessive mutations have a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with recessive mutations have a more severe phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients with t2 deficiency and urinary abnormalities may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:patients younger than 30 years complain only that they cannot run fast
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pavm more frequent in hht1 than hht2
n1=en:no consistent dysmorphic facial phenotype | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:phenotypic variation in severity and symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pigment does not develop with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pigmentation not always butterfly-shaped
n1=en:no consistent dysmorphic facial phenotype | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:possible gonadal mosaicism in one report
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:precipitated by mechanical compression or pressure on nerve
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:precipitating factors include viral illness and pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:predisposition to neoplasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:premature aging syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prenatal history of maternal diabetes in 35% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prenatal onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal onset | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:preponderance of affected females (80%) to males
n1=en:no consistent dysmorphic facial phenotype | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:presents at 2 to 3 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence estimated at 1 in 50,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence in the finnish population of 5.8 per million
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence of 1 in 150 to 1 in 1,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence of 1 in 150,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence of sleep terrors less than 1% in adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence of sleepwalking about 3% in adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalence of true hypoprothrombinemia is 1 in 2 million
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalent among patients of asian descent, particularly japanese
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalent among the amish
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:progressive disorder that may become stable in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder that may become stable in young adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:protracted disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:protracted disease course | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid
n1=en:no consistent dysmorphic facial phenotype | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:pyridoxine responsive individuals often have milder manifestations than those not responsive
n1=en:no consistent dysmorphic facial phenotype | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:rapid disease progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:rapid progression to disability
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:rapidly progressive course
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:rare patients with homozygous null mutations have most severe disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reason for lab test:type:pt:bld.dot:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:recurrence is possible
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reduced life expectancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reduced life expectancy, death by 10 years of age in 70% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reference lab test name:type:time reported elsewhere:reference lab test:nominal
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:regional, racial, and ethnic clustering has been noted
n1=en:no consistent dysmorphic facial phenotype | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:relatively mild cutis laxa, associated with severe vascular abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:repeat tracts may expand as patient ages (somatic instability)
n1=en:no consistent dysmorphic facial phenotype | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reported in the ohio amish anabaptist community
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:resembles intrauterine torch infection but without intrauterine infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:responsive to thiazide diuretics
n1=en:no consistent dysmorphic facial phenotype | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:results in severe motor disability and loss of independent ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:risk of affected offspring in maternal translocation carrier - 4-10%
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:risk of thromboembolic stroke
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see (608328) for a phenotypically similar autosomal dominant form
n1=en:no consistent dysmorphic facial phenotype | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see 607731 for an autosomal recessive form
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also autosomal form, 146450, and another x-linked form, 300633
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also autosomal recessive familial mediterranean fever (fmf, 249100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also autosomal recessive robinow syndrome (268310)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also ecyt2 (263400) and ecyt3 (609820)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also infantile (600649) and late-onset (255110) cpt ii deficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also later childhood-onset form (300718)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also more severe phenotype peeling skin syndrome (270300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also oca1a (203100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also pfm3 on chromosome 4q21-q23 (609566)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also pseudohypoparathyroidism type ia (103580)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also pseudohypoparathyroidism type ia (php1a, 103580)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also pseudopseudohypoparathyroidism (612463)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also x-linked dominant form (300652)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:see entry 104300 for general information on alzheimer disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seizure onset between 3 and 11 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seizures are refractory
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seizures may remit later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may remit later in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seizures tend to occur upon awakening
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seizures usually remit in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:seventy percent of cases have associated anomalies
n1=en:no consistent dysmorphic facial phenotype | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:severe ambulatory restriction
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:sex ratio - 2.3 males-to-1 female
n1=en:no consistent dysmorphic facial phenotype | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:significant clinical overlap with sotos syndrome (117550)
n1=en:no consistent dysmorphic facial phenotype | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:simple febrile seizures usually remit by age 6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:six patients have been reported (5/18/2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:six patients have been reported (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:skeletal and facial features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:skin abnormalities tend to decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:skin and hair abnormalities apparent at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin and hair abnormalities apparent at birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:skin changes have onset in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:slow progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:slow progression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:slow progression without marked disability
n1=en:no consistent dysmorphic facial phenotype | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:slow, progressive growth, then stable
n1=en:no consistent dysmorphic facial phenotype | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:somatic mosaicism has been observed in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:somatic mosaicism has been observed in some patients | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some affected family members are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some affected family members are asymptomatic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some affected individuals have normal subsequent development
n1=en:no consistent dysmorphic facial phenotype | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some carrier females have mild features
n1=en:no consistent dysmorphic facial phenotype | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients experience later reversal of hypogonadotropic hypogonadism
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients have a milder nonprogressive phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients have a severe phenotype with neurologic manifestations beginning at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients have an attenuated phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients require cardiac transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients show rapid disease progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:some patients show significant clinical improvement with riboflavin supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:spontaneous resolution usually after 12 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:spontaneous reversal of gnrh deficiency may occur in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:spontaneous tumor regression may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:sporadic occurrence
n1=en:no consistent dysmorphic facial phenotype | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:stage ii, rapid developmental regression (onset 1-4 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:sudden death in affected females occurs in the forties
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:sudden death secondary to impaction of medulla oblongata
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:survival greater than one year rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:survival to 5-15 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:survival to advanced age
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))
n1=en:no consistent dysmorphic facial phenotype | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms appear in early childhood and are progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms appear in early childhood and are progressive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms precipitated by exercise and excitement
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms precipitated by sudden movements
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms usually occur in adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:symptoms usually resolve without treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:syncope
n1=en:no consistent dysmorphic facial phenotype | n2=en:syncope | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:tendency to lighter pigmentation than unaffected relatives
n1=en:no consistent dysmorphic facial phenotype | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support
n1=en:no consistent dysmorphic facial phenotype | n2=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:thiamine supplementation may be beneficial
n1=en:no consistent dysmorphic facial phenotype | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three families described (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three patients reported, one with a wdpcp mutation (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three sibs born of consanguineous arab parents have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three sibs in one consanguineous iranian family have been described (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three unrelated families have been reported (as of june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three unrelated families have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:three unrelated patients have been reported (last curated january 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:thyroid carcinoma
n1=en:no consistent dysmorphic facial phenotype | n2=en:thyroid carcinoma | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:treatment with tnf inhibitors may be beneficial
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with tnf inhibitors may be beneficial | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:tremor is aggravated by low glucose or light
n1=en:no consistent dysmorphic facial phenotype | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:triggered by minor head trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:twenty-five percent of affected babies are stillborn
n1=en:no consistent dysmorphic facial phenotype | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two affected sibs have been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two families described (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two japanese brothers have been reported (as of september 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two patients required liver transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two sibs have been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two sisters have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two sisters have been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated consanguineous families have been reported (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated consanguineous families have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated families have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated families have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated families have been reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated families have been reported (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated families have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated japanese families have been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated patients have been reported (as of august 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated patients have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:two unrelated patients with different phenotypes have been reported (as of march 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:type 1 porencephaly is usually unilateral and results from destructive lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:type 3: craniosynostosis, early demise, sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
n1=en:no consistent dysmorphic facial phenotype | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:type ii is progressive and leads to shortened lifespan
n1=en:no consistent dysmorphic facial phenotype | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
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:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:type iii is intermediate form
n1=en:no consistent dysmorphic facial phenotype | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | 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=35
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:upper limb involvement usually occurs later
n1=en:no consistent dysmorphic facial phenotype | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usual onset before age 6 years and death by age 20
n1=en:no consistent dysmorphic facial phenotype | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually affects children
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually affects children | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually death in utero or rarely in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually occurs in young adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:usually sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually sporadic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset (birth to adolescence)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset (birth to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset (range 15 to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset (range 2 to 59 years, mean 24 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset of symptoms, ranging from the second to seventh decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset, infancy to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset, ranging from childhood to late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age at onset, ranging from prelingual at birth to fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, ranging from prelingual at birth to fifth decade | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age of onset (6 to 35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable age of onset (first to third decades)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable cataract phenotypes within a family
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable disease severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable disease severity | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable distribution, may be focal, segmental, multifocal, or generalized
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable expressivity, even within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity, even within families | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable expressivity, some patients may be clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable extraneurologic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable manifestations | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable phenotype ranging from woolly to sparse hair, even within a single family
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable phenotype within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable phenotype, some patients have very mild symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable progression | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable severity (in patients with hsan2d)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:variable severity between patients and between eyes (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity between patients and between eyes (in some patients) | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:visual impairment is present at birth and is progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:waddling gait noted at age 15-20 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:walking delay
n1=en:no consistent dysmorphic facial phenotype | n2=en:walking delay | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:wide phenotypic variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:worldwide frequency of 1 in 100,000 infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 35 / 0.814 ->
en:xy karyotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:xy karyotype | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:(2) juvenile or adolescent nephropathic (219900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:(3) adult nonnephropathic (219750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:1 in 19,000 in japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:12% due to epimutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:15 patients from 5 kindreds reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:40% patients have associated abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:46,xx carriers are unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:46,xx carriers are unaffected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:5-10% of all wilms tumor are bilateral
n1=en:no consistent dysmorphic facial phenotype | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:7 unrelated patients have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient
n1=en:no consistent dysmorphic facial phenotype | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:a second family had mild intellectual disability
n1=en:no consistent dysmorphic facial phenotype | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:a subgroup of patients with sponastrime dysplasia have severe mental retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:about 50% of patients have intellectual disability and/or hydrocephalus
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (18 to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (after age 35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (before 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (mean age 37 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (range 14 to 70 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (range 34 to 66 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (second to sixth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset (third decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adult onset form usually presents with psychiatric manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:adults may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:affected infants appear normal at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:affected males who survive are secondary to new mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:affects 1 in 250,000 to 1 million people worldwide
n1=en:no consistent dysmorphic facial phenotype | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:affects up to 10% of the population
n1=en:no consistent dysmorphic facial phenotype | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age at diagnosis 2-4 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age at diagnosis 24 +/- 18 years for dominant disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age at diagnosis 36 +/- 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age at first pregnancy:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age at onset ranges from childhood to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age of onset 2-8 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age of onset 5 to 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age of onset between 20 to 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age of onset varies between 18 years and 53 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:age of onset/diagnosis 12-35 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:alcohol may alleviate symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:all cases are de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:all cases due to de novo mutation (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:all patients have duplication of at least the crebbp gene (600140)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:all reported cases have occurred de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to child syndrome (308050)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to early-onset sarcoidosis (609464)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to paramyotonia congenita (168300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to acrocapitofemoral dysplasia (607778)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to autosomal recessive pxe (264800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to brachydactyly, type a1 (112500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to craniometaphyseal dysplasia (123000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to dentinogenesis imperfecta 1 (125490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to early-onset familial alzheimer disease (ad1, 104300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to enhanced s-cone syndrome (268100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to mucopolysaccharidosis ivb
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to pseudoachondroplasia (177170)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to rett syndrome (312750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:allelic with smith-mccort dysplasia (607326)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:anemia is not responsive to pyridoxine supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia is not responsive to pyridoxine supplementation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:anemia may be responsive to iron chelation treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia may be responsive to iron chelation treatment | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:antenatal onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:antenatal onset | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:apparent at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:apparent at birth | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:approximately 10% of als cases are familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:approximately 25% have a severe course and die of respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:approximately 40% of cases are inherited or new germline mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:approximately 60% of brrs patients have pten mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:approximately half of patients need ambulatory support after the fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:as of 2009, one family has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:associated with the tau (157140) h1 haplotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:associated with untreated phenylketonuria (261600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:attacks tend to decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:attacks typically last for minutes
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:atypical hemolytic-uremic syndrome shows onset in first 12 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:autosomal dominant and autosomal recessive forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:autosomal recessive form (277720) has also been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:average age at onset is 24 years (range 4 to 58 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:average age of onset 13 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:average age of onset 6 months (range birth - 2 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on 1 family (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on 2 siblings in 1 family (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on 4 patients in one family
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on one 4-generation german family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one 4-generation german family (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on report of 1 family of german ancestry (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family of german ancestry (last curated december 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on report of a chinese father and son (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of a chinese father and son (last curated may 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on the report of 1 consanguineous arab family (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on the report of 1 consanguineous arab family (last curated january 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:based on the report of 1 japanese family (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on the report of 1 japanese family (last curated july 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:bone abnormalities improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:both reported cases survived beyond infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:can be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:can be categorized into 3 groups
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:candidiasis is usually the first symptom
n1=en:no consistent dysmorphic facial phenotype | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:cardiac arrest and sudden death may occur, even in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:carrier frequency 1:200,000 in france
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:cataracts develop by second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataracts develop by second decade of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:cause of death usually due to respiratory failure before adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:caused by paternally-inherited inactivating gnas1 mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:cerebellar ataxia shows onset in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:child often can sit unsupported but never ambulates
n1=en:no consistent dysmorphic facial phenotype | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:childhood onset (range birth to 12 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:chronic, relapsing condition
n1=en:no consistent dysmorphic facial phenotype | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:clinical and biochemical abnormalities improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:complete absence of melanin synthesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:conduction defect is progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:contiguous gene syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
n1=en:no consistent dysmorphic facial phenotype | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:de novo mutation in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation in most patients | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death at birth or within first 2 years of life (severe form)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in early infancy (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in infancy secondary to pulmonary insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in infancy without bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in teens secondary to cardiac failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death in utero
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death often in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death usually by age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death usually in sixth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death usually occurs in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:death usually occurs in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:defect in tetrahydrobiopterin (bh4) synthesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:delayed separation of umbilical cord
n1=en:no consistent dysmorphic facial phenotype | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:described in 3 unrelated infants (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:diabetes and anemia respond to high doses of thiamine supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:diagnosis in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:diagnosis within the first 3 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:disease is nonprogressive in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease is nonprogressive in most patients | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:disorder becomes apparent around age 2 years when patients begin to walk
n1=en:no consistent dysmorphic facial phenotype | n2=en:disorder becomes apparent around age 2 years when patients begin to walk | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:disorder may progress to involve a larger body area
n1=en:no consistent dysmorphic facial phenotype | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:dystonia occurs later
n1=en:no consistent dysmorphic facial phenotype | n2=en:dystonia occurs later | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:earlier onset associated with increased severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:early adult onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:early death (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:early death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death may occur | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:early death without kidney transplant
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:eight patients from 2 unrelated families have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:electrolyte imbalances can mimic renal bartter syndrome (601678)
n1=en:no consistent dysmorphic facial phenotype | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:elevated afp can be seen in other disorders
n1=en:no consistent dysmorphic facial phenotype | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:end-stage renal failure may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:epilepsy with grand mal seizures on awakening (egma, 607628)
n1=en:no consistent dysmorphic facial phenotype | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:episodes last from several hours to days
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:episodes usually last 1 to 2 days
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:estimated frequence 1/3000 to 1/5000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:estimated frequency 1.6 cases/10,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:existence as a distinct entity is not confirmed
n1=en:no consistent dysmorphic facial phenotype | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:extreme clinical heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:eye involvement begins at birth, neurologic involvement begins later
n1=en:no consistent dysmorphic facial phenotype | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:facial dysmorphic features are mild
n1=en:no consistent dysmorphic facial phenotype | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:facial dysmorphism is age-related and alters substantially over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:familial form
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial form | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:fatal in the neonatal period (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:fatal without bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response of episodic attacks to acetazolamide
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response to a ketogenic diet
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response to anticholinesterase medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response to bh4 therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response to l-dopa without side effects
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favorable response to treatment with minocycline or azithromycin
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:favoring of fat and protein
n1=en:no consistent dysmorphic facial phenotype | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:female carriers experience significant clinical manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:female carriers may have asymptomatic proteinuria or hypercalciuria
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:female carriers may have subtle manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:females may be unaffected or mildly affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:few familial (parent offspring) cases reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:findings in muscle biopsy may be variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:fishy body odor
n1=en:no consistent dysmorphic facial phenotype | n2=en:fishy body odor | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:five reported patients, all boys (as of july 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:five unrelated patients have been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:founder effect in turkish families
n1=en:no consistent dysmorphic facial phenotype | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:four patients from 3 families have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:four unrelated patients have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:fractures often heal without deformity
n1=en:no consistent dysmorphic facial phenotype | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:frequency 1/100,000 - 1/130,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:frequency and severity of symptoms do not worsen with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:generally mild phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see 209850)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see 610168)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see bfic2, 605751)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see psnp2 609454)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see, e.g., 600795, 105550)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:genetic heterogeneity, see ppnad2 (610475)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:good response to fibrinolytic inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:green color resolves if cholestasis is treated
n1=en:no consistent dysmorphic facial phenotype | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hair loss begins in first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hair tends to straighten by 2nd-3rd decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:half (50%) of affected patients have a recurrent episode with worse outcome
n1=en:no consistent dysmorphic facial phenotype | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)
n1=en:no consistent dysmorphic facial phenotype | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hearing impairment may improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hearing loss and hoarseness occur later
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hearing loss ma be fluctuating or progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:hernia occurs in 22% of adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygotes are usually asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygous carriers have decreased blood pressure compared to the general population
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygous female carriers may manifest symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:high frequencies affected before low frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:high incidence among old order amish
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:high pain threshold
n1=en:no consistent dysmorphic facial phenotype | n2=en:high pain threshold | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:highly variable frequency and severity of attacks
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:highly variable organ involvement and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:highly variable phenotype in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:highly variable phenotype, even within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:immunosuppressive therapy may be beneficial
n1=en:no consistent dysmorphic facial phenotype | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence 1/20,000-1/64,000 male births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence in finland is 1 in 76,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence of 1 in 10,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence of 1 in 5,000 to 1 in 10,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence of 1 in 500,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence of 1 in 57,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence of 1/100,000 in italy and finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incomplete penetrance in carrier females
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incomplete penetrance of optic atrophy
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased abortuses of homozygous or compound heterozygous fetuses
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased frequency in finland (prevalence of 1 in 20,000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased male to female ratio (7.5:1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased prevalence among smokers
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence among smokers | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased risk of bilateral breast cancer
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased risk of developing multiple primary cancers
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:increased susceptibility to multiple carcinomas
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:independent ambulation is maintained
n1=en:no consistent dysmorphic facial phenotype | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:initial development may appear normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:initially normal for first 6-18 months which is then followed by withdrawal and regression
n1=en:no consistent dysmorphic facial phenotype | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:interfamilial and intrafamilial clinical heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:intermittent pyrexia
n1=en:no consistent dysmorphic facial phenotype | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:intolerant of heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:intrafamilial variability in nail changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:isolated cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:isolated cases | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:itch, pain, and body malodor often
n1=en:no consistent dysmorphic facial phenotype | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:laboratory comment:txt:pt:report:nar
n1=en:no consistent dysmorphic facial phenotype | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:late infantile form has onset between 19 months and 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:late-adult onset (age 50 or later)
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset (age 50 or later) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:later onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset may occur | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:leigh syndrome, x-linked
n1=en:no consistent dysmorphic facial phenotype | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:lesions occur mainly on the pinnae of the ears or on the face
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:lethal in first weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in first weeks of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:luton and torrance type differentiated based on histologic findings in cartilage
n1=en:no consistent dysmorphic facial phenotype | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart
n1=en:no consistent dysmorphic facial phenotype | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:madelung deformity more frequent and more severe in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)
n1=en:no consistent dysmorphic facial phenotype | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:majority of cases from middle eastern countries
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:majority of cases have been sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:majority of individuals are healthy
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:male to female ratio is greater than 3:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:male-limited trait
n1=en:no consistent dysmorphic facial phenotype | n2=en:male-limited trait | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:male-to-female ratio 3 to 1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:males are most severely affected, but females can also be affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:males tend to have earlier onset than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:many become wheelchair bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:many become wheelchair bound | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:many patients become wheelchair-bound later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:marked clinical heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:marked intrafamilial and interfamilial variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:marked variability in the deletion size
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:maternal imprinting
n1=en:no consistent dysmorphic facial phenotype | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:may be lethal in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be lethal in infancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:may result in death in neonatal period or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mean age at onset 15.2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mean age at onset of proximal muscle weakness, 31 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mean age of onset 14-24 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mean duration of symptoms 4.2 plus or minus 2.4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:median age at diagnosis, 59 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:median age of diagnosis - 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:median age of onset of pancytopenia - 10 years (range 1-32 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:median age of onset of pigmentation - 8 years (range 1-15 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:middle age onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:middle age onset | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mild to severe forms of disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:more common in women
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in women | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:more commonly observed in women
n1=en:no consistent dysmorphic facial phenotype | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:more frequent in individuals of asian descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:more prevalent in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:more than half of patients develop retinal detachments and/or retinoschisis later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:moroccan jewish and ashkenazi jewish families have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:moroccan jewish and ashkenazi jewish families have been described | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mortality, premature
n1=en:no consistent dysmorphic facial phenotype | n2=en:mortality, premature | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most common form of childhood idiopathic epilepsy
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most common form of inherited, congenital hydrocephalus
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most common muscle disease of older persons
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients are clinically asymptomatic and show normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients are severely affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients become wheelchair-bound after 20 to 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients become wheelchair-bound in the second to fourth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients require liver transplant in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most patients require renal transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients require renal transplantation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:most severe type of von willebrand disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:mutations occur de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:neonatal lethal due to respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:neurologic signs are present in the neonatal period only
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:neurologic symptoms are progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:night blindness from early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:no clinical description given for 1 reported patient (last curated december 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:no clinical manifestations were noted (incidental laboratory finding)
n1=en:no consistent dysmorphic facial phenotype | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:no history of familial hypercholesterolemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)
n1=en:no consistent dysmorphic facial phenotype | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:non-progressive or very slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:nonpenetrance has been observed
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:normal alleles have 25 to 44 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:normal birth (finding)
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:normal growth and development after 1 year of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:normal sclerae and teeth
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal sclerae and teeth | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:obligatory heterozygotes are clinically unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)
n1=en:no consistent dysmorphic facial phenotype | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:occurs in ~3% pregnancies in western populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:occurs in 1 in 50,000 newborn males
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:often diagnosed between ages 3-4 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:often fatal in utero
n1=en:no consistent dysmorphic facial phenotype | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:often reared as females until puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one 3-generation danish family reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 3-generation danish family reported (last curated march 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one chinese family with a confirmed mutation has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one consanguineous pakistani family has been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one consanguineous pakistani family has been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family and an unrelated patient have been reported (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and an unrelated patient have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family from hong kong has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family has been reported (as of october 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family has been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family has been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family has been reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family has been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family with 2 affected brothers has been reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one french family has been reported (last curated march 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one italian family has been described (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one italian family has been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one large 3-generation irish family has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one large family has been reported (last curated june 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one male patient has been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one male patient has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one palestinian family and one lebanese family have been described (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one palestinian family and one lebanese family have been described (last curated march 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one patient has been reported (as of december 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one patient has been reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:one report of brother and sister from nonconsanguineous parents
n1=en:no consistent dysmorphic facial phenotype | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset 6 months to 2.5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset 6 to 12 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset around puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset around puberty | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset as neonate
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset as neonate | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset at 2 to 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset at 6-9 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset at birth or early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset before age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset before age 5 years in the absence of instruction
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset between 15 and 27 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset between 2 to 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset by 3 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset day of life 1-10 in infants fed lactose-containing milk
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in adolescence or adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in adolescence or young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in adolescence to early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in childhood (range 1 to 12 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in childhood or teenage years (7 to 16 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in early infancy, between 2 weeks and 3 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in females ranges from third to seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first and second decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first decade (e.g. 180380.0028)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first decade (range 1 to 9 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (range 1 to 9 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first decade after normal early development
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first hours to days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in infancy (3 to 7 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in infancy and early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in infancy of acute hypoglycemic episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in infancy or first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in late twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in late-childhood to early adulthood (12 to 20 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in mid to late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in teens has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in teens to 20's
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in the 3rd decade of life or later
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in the first decade (range birth to 8 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset in the neonatal period (0-38 days)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset is usually in childhood or adolescence (2 to 18 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset mid to late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of abnormal eye movements in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of achalasia in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of acne in adolescence, persists into adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of ataxia in early childhood (range 15 months to 3 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of clinical features around puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of disease before 7 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of disease within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of normal pressure hydrocephalus after age 65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of optic atrophy in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of optic atrophy in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of progressive spastic paraplegia in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of renal failure in adulthood (range twenties to fifties)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of seizures in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of seizures in later childhood (5 to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of sleepwalking between 4 and 8 years old
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset of symptoms between ages 3-8 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset ranges from childhood to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset soon after birth or within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset usually by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset usually in childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset usually in infancy although later onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset usually in second decade (may occur earlier)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset usually in third or fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:onset within first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:other muscle become involved about 5 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:other tumors may also occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:overlap with obsessive-compulsive disorder (ocd, 164230)
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pain in lower limb
n1=en:no consistent dysmorphic facial phenotype | n2=en:pain in lower limb | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:paternal age effect
n1=en:no consistent dysmorphic facial phenotype | n2=en:paternal age effect | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:paternal anticipation bias
n1=en:no consistent dysmorphic facial phenotype | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pathogenic alleles contain 52 to 86 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pathogenic alleles contain greater than 41 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patient b had a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:patient b had a more severe phenotype | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients can be divided into 2 groups based on whether typical hand anomalies are present
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients gradually develop tolerance to carbohydrates over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients may become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients may present with recurrent illnesses or infections, or shock
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients often require implantation of a pacemaker
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients present at birth with respiratory distress or poor head control
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients require achilles tendon lengthening in first or second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients with later onset have better prognosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:patients with total c4 deficiency are homozygous for double null c4 haplotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:peo is not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:peo is not always present | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:periodontium is less severely affected than in papillon-lefevre syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:peripheral neuropathy occurs in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotype may be influenced by maternal alcohol consumption during pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic overlap with currarino syndrome (176450)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic overlap with cytochrome c oxidase deficiency (220110)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic overlap with frontotemporal dementia (600274)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:phenotypic similarities to noonan syndrome (163950)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pigmented spots appear in infancy through childhood and fade in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:plantar contractures become apparent with onset of ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pneumocytosis carinii infection (12 to 42%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:poland syndrome can be associated with moebius syndrome (157900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:poor outcome
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor outcome | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:possibly allelic to cohen syndrome (216550)
n1=en:no consistent dysmorphic facial phenotype | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:precipitated by fever
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:precipitated by infection, fasting, or intercurrent illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prenatal or perinatal lethality in hemizygous males
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:presentation after 6 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:presents at a later age than sporadic wilms tumor
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:presents at birth or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prevalence 1 in 1,250
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prevalence of 1 in 10,000 caucasians
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prevalence of 1 in 40,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prevalence of sleep terrors about 3% in children
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progression of phenotype with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progression of the disorder is precipitated by viral symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progressive disorder regarding both neurologic and renal symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progressive skeletal dysplasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive skeletal dysplasia | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:progressive, with full manifestations at puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:protracted course
n1=en:no consistent dysmorphic facial phenotype | n2=en:protracted course | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:psychomotor delay may already be apparent at onset of seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:pyogenic arthritis, pyoderma gangrenosum and acne
n1=en:no consistent dysmorphic facial phenotype | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:rare spontaneous improvement occurs (8%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:reported in individuals of french canadian origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:resembles pseudo-torch syndrome (251290)
n1=en:no consistent dysmorphic facial phenotype | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:residual neurologic deficits are slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:response to acetazolamide
n1=en:no consistent dysmorphic facial phenotype | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:response to benadryl (diphenhydramine)
n1=en:no consistent dysmorphic facial phenotype | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:retinal holes were present in an asymptomatic female carrier
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:risk of sudden death
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:second most common form of usher syndrome type i
n1=en:no consistent dysmorphic facial phenotype | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also autosomal dominant form (160800), which is less common and less severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also autosomal dominant giant axonal neuropathy (610100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also autosomal dominant hypophosphatemic rickets (193100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also autosomal dominant lutheran-null phenotype (111150)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also autosomal dominant robinow syndrome (180700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also cbld (277410)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also dominant deb (131750), an allelic disorder with a less severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also erythrocytosis 1 (ecyt1, 133100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see also pgl1 (168000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:see recessive form optb4 (611490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see recessive form optb4 (611490) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seen more frequently in infants of diabetic mothers
n1=en:no consistent dysmorphic facial phenotype | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures are responsive to pyridoxine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures may occur with illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures may persist into adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures may remit in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures remit spontaneously by age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seizures resolve by 4 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:serum triglycerides decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:seven patients reported (as of march 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:severe hearing loss by age 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:severe infantile form presents before 6 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:shields classification -
n1=en:no consistent dysmorphic facial phenotype | n2=en:shields classification - | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:sister of affected male siblings had mild learning disabilities and obesity
n1=en:no consistent dysmorphic facial phenotype | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:skewed x-inactivation in carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:skin lesion appear shortly after birth and tend to disappear in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:sleep terrors usually remit during adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:sleepwalking usually remits in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003)
n1=en:no consistent dysmorphic facial phenotype | n2=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:slowly progressive or nonprogressive course
n1=en:no consistent dysmorphic facial phenotype | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:smaller repeat lengths in younger generations (reverse anticipation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some features are variably expressed
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some females are affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:some females are affected | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients can be treated with large doses of vitamin d and calcium
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients develop ophthalmoplegia in middle age
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients do not have bone disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients have additional neurologic involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients have cessation of seizures at a mean of 12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients have juvenile-onset myoclonic epilepsy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients have later onset of the disorder as young adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients may be clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients may develop interictal progressive ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients may have a more protracted disorder with neurodegeneration
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients never achieve walking or running
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients never gain ambulation or become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients respond to acetazolamide
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients show no bleeding abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:some patients show onset later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain
n1=en:no consistent dysmorphic facial phenotype | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:spontaneous resolution by 12 months of age with no recurrence later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:static, nonprogressive disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:subset of patients have french-canadian leigh syndrome (220111)
n1=en:no consistent dysmorphic facial phenotype | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:successful treatment with oral isotretinoin
n1=en:no consistent dysmorphic facial phenotype | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:sudden death due to cardiomyopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:symptoms are responsive to cobalamin treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:symptoms present from infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:symptoms relieved by serotonin antagonist (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:systemic granulomatous disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:the frequency is estimated at 1/20,000 to 1/50,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:thin, fine hair described in few individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:those with intermediate repeat expansions show reduced penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:three families of ashkenazi jewish descent have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:three patients from 2 unrelated families have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients from 2 unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:three patients have been reported (as of november 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:three unrelated males have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated males have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:triggered by exercise, fasting, or other metabolic stresses
n1=en:no consistent dysmorphic facial phenotype | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:tumors may show spontaneous regression
n1=en:no consistent dysmorphic facial phenotype | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two affected females have been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two affected females have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two families have been reported (last curated december 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two families reported (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two main phenotypes, metabolic and neurologic
n1=en:no consistent dysmorphic facial phenotype | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two pakistani families reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two patients have been reported (as of august 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two related patients have been reported (as of november 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two subtypes noninflammatory type a and inflammatory type b
n1=en:no consistent dysmorphic facial phenotype | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated families have been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated families have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated families have been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated families of european descent have been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families of european descent have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated patients have been reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated patients have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated patients have been reported (last curated june 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated patients have been reported (last curated march 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:type 2b is characterized by increased affinity for platelet glycoprotein 1b
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:type ii patients are usually japanese and have significant aprt activity (10-25%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:type iiib liver involvement only (15% of all cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:typical attacks last from seconds to minutes, but longer occurrences have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)
n1=en:no consistent dysmorphic facial phenotype | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:ultrasound detection in second trimester of pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
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:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:usually begins in feet and legs (peroneal distribution)
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:usually fatal by age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:usually fatal within the first few weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset (8 to 62 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset (childhood to age 50)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset (range 14 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset of seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset, most often in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset, ranges from third to fifth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset, usually first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, usually first or second decade | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age at onset, usually in first decade, but can occur later
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable age of onset (7-59 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals
n1=en:no consistent dysmorphic facial phenotype | 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=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable involvement of hematologic parameters
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable penetrance | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable presentation and manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable response to acetylcholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable response to levodopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity and progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity of clinical and radiologic manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity of scaling and palmoplantar keratoderma
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity of scaling and palmoplantar keratoderma | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity, correlates with age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity, ranging from central severe to peripheral to transient
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variable severity, some patients have a protracted course with little neurologic involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:variation in slc24a5 has also been associated with variation in skin color (shep4)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:very few patients reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:very few patients reported | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:visual acuity better than anticipated from ophthalmoscopic appearance
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual acuity better than anticipated from ophthalmoscopic appearance | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:waxing and waning cardiomyopathy (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:wide range of severity between affected members of the same family
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:wide spectrum of severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:worldwide frequency of 1 in 2,000,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 34 / 0.791 ->
en:young adult onset (range 13 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=34
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:(2) intermittent
n1=en:no consistent dysmorphic facial phenotype | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:1 patient reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:10% due to paternal deletion
n1=en:no consistent dysmorphic facial phenotype | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:2-3% due to imprinting defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:a mutation in the cxorf5 gene has been reported in 1 affected family
n1=en:no consistent dysmorphic facial phenotype | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:about a dozen patients have been reported (as of march 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:absence seizures usually remit by puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:adult onset (40 to 60 years old)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:adult onset (range 15 to 53 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:adult onset may also occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:affected individuals die soon after birth due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals die soon after birth due to respiratory failure | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:affected individuals have amnesia for events
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:affected individuals may have biallelic or heterozygous mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals may have biallelic or heterozygous mutations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:affected males are infertile, whereas affected females have recurrent pregnancy loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:affected males have normal pubertal development and are fertile
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age at diagnosis 28 +/- 18 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age at diagnosis 9 +/- 6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age at onset 8 to 55 years (mean 40 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age at onset can range from infancy to childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age at onset in females ranges from childhood to the fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age of onset 23-59 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age of onset between 5 and 10 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age of onset ranges from infancy to young adulthood (6 months-19 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age of onset varies ranging from 3 weeks to 22 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:age:time:pt:^patient:qn:reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:aggravated by physical activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:all patients have severe hearing loss 10 to 15 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to limb-mammary syndrome (lms, 603543)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to margarita island type of ectodermal dysplasia (225060)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to spinal muscular atrophy type i (253300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
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:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to anterior segment mesenchymal dysgenesis (107250)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to dentin dysplasia, type 2 (125420)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to dyggve-melchior-clausen disease (223800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to kenny-caffey syndrome type 1 (244460)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to naxos disease (601214)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to neurofibromatosis-1 (nf1, 162200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to noonan syndrome (163950)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to roberts syndrome (268300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:allelic to sialuria, finnish type (604369)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:appear normal at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:approximately half of cases are due to de novo deletions
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:associated with increased frequency of autoimmune diseases
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:at birth, there is generalized red scaly skin
n1=en:no consistent dysmorphic facial phenotype | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:autoimmune features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:autosomal recessive cytochrome b-positive cgd, type i
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:autosomal recessive inheritance can occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:average age at diagnosis 17.8 years (range 2-35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:average age at onset 16.6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:average age at onset 66 years although earlier onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on 2 cousins in a consanguineous family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 cousins in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on 2 men from 2 unrelated consanguineous iranian families
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 men from 2 unrelated consanguineous iranian families | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on a report of one dutch family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a report of one dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on detailed clinical description of 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on detailed clinical description of 1 family | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on one pakistani family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on one report of a 4-generation family with 4 affected males and 6 affected females
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on report of 1 consanguineous pakistani family (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on report of 1 family (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on report of 2 families (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:based on report of 2 unrelated patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 unrelated patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:begins in hands or feet, later generalized
n1=en:no consistent dysmorphic facial phenotype | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:behavioral problems including stubbornness and rage
n1=en:no consistent dysmorphic facial phenotype | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:blisters are precipitated by minor skin trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:both demyelinating and axonal features
n1=en:no consistent dysmorphic facial phenotype | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:boys are more often affected than girls (3:2)
n1=en:no consistent dysmorphic facial phenotype | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:can also be caused by contiguous gene deletion on chromosome 22q11.2
n1=en:no consistent dysmorphic facial phenotype | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:cancer onset usually in mid-adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:cancer onset usually in mid-adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:cardiac failure at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:carrier mothers have urine biochemistry profiles identical to those of their sons
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:changes more marked in hands than feet
n1=en:no consistent dysmorphic facial phenotype | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:characterized by calf weakness at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:chelation therapy can result in clinical improvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:childhood or adolescent onset, protracted, with myopathy and neuropathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:chromosomal hypersensitivity to ionizing radiation and alkylating agents
n1=en:no consistent dysmorphic facial phenotype | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:chronic disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:chronic disease | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:clinical features based on 1 reported family (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:clinical features other than liver findings may vary
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical features other than liver findings may vary | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)
n1=en:no consistent dysmorphic facial phenotype | n2=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:congenital or early onset hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital or early onset hearing loss | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:considered a normal variant
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:coronary artery disease or myocardial infarction in fifth or sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:de novo deletions in 8% of patients (preferentially paternally derived)
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:de novo mutation in heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation in heterozygotes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death between 2 years of age and young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death by age 15 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death by age 5 (infantile form)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death in utero or as neonate
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death usually in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death usually in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death usually in teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death usually occurs by 12 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death within 12 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within 12 months | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death within first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within first decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:death within first year of life in 25%
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:deletion sizes range from 287kb to 4.4mb
n1=en:no consistent dysmorphic facial phenotype | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:deposits may recur in graft after corneal transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:described in 6 japanese families
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:diagnosis in seventh decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis in seventh decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:diagnosis in the second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:diagnosis typically between age 10-20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:diarrhea worsens in parallel with increases in severity of skin disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)
n1=en:no consistent dysmorphic facial phenotype | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:disease complicated by recurrent sepsis in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:disproportionately short limbs often noted at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:diurnal fluctuation of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications
n1=en:no consistent dysmorphic facial phenotype | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:dysmorphic features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:early age of onset (approximately 45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:early death in early adulthood often associated with diverticulitis and intestinal perforation
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:early death in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death in males | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:early treatment can reduce neurologic symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:early-onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:early-onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:episodes are triggered by hunger, fatigue, cold, stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:estimated incidence of 1-2 in 10,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:estimated prevalence of 1 in 16,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:excessive skin picking of sores
n1=en:no consistent dysmorphic facial phenotype | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:extreme variability in severity of features
n1=en:no consistent dysmorphic facial phenotype | n2=en:extreme variability in severity of features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:f syndrome (102510) has many overlapping features
n1=en:no consistent dysmorphic facial phenotype | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:facial appearance becomes more apparent with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:family c had a milder phenotype with survival into adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:family c had a milder phenotype with survival into adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:fat pads become less prominent with time
n1=en:no consistent dysmorphic facial phenotype | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:fatal before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:fatal without hematopoietic stem cell transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:favorable response to corticosteroid treatment (1 family)
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:favorable response to high-dose steroids
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:favorable response to hydroxychloroquine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:favorable response to spironolactone
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:favorable response to treatment with riboflavin
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:features are highly variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:features are highly variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:features in addition to mental retardation are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:febrile seizures remit by age 5 or 6
n1=en:no consistent dysmorphic facial phenotype | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:female carriers are unaffected or show neuropsychiatric features
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:female carriers may show intermittent hematuria
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:female to male ratio, 1:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:females are more often affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:females are more often affected | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:focal or segmental onset in cranial-cervical area or upper limbs
n1=en:no consistent dysmorphic facial phenotype | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:foot dragging may appear in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:forty percent of patients die in the first year
n1=en:no consistent dysmorphic facial phenotype | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:found predominantly in the amish population
n1=en:no consistent dysmorphic facial phenotype | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:four patients from 3 families have been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:four unrelated families have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:four unrelated patients reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients reported (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:fractures decrease after puberty but increase after menopause
n1=en:no consistent dysmorphic facial phenotype | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:full recovery after attacks
n1=en:no consistent dysmorphic facial phenotype | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:gei (gene-environment interaction) - association of cardiac events with drug administration
n1=en:no consistent dysmorphic facial phenotype | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see 157640)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see 166600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see 191100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see 607634)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see 609192)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see cmt1b 118200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see feb1 121210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see gefs+, 604233)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see hcfp1, 601471)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see pfic1, 211600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see psnp1 601104)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see rmd1, 600332)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see sca1, 164000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity (x-linked form 305100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity, see cild1 (244400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:germline and somatic mutations contribute to this disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:gestational age:time:pt:^fetus:qn:amniocentesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:gonadal and somatic mosaicism reported in parent
n1=en:no consistent dysmorphic facial phenotype | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:good response to medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to medication | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:group b patients die by 3 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:haploinsufficiency of grn (138945)
n1=en:no consistent dysmorphic facial phenotype | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:hearing loss is congenital and nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is congenital and nonprogressive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:hearing loss is nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is nonprogressive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:hearing loss is variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:high frequency in finnish population
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:high recurrence rate
n1=en:no consistent dysmorphic facial phenotype | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:highly variable age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:highly variable degree of bone fragility, even among patients carrying the same mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable degree of bone fragility, even among patients carrying the same mutation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:highly variable expression
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable expression | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:highly variable severity and features
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:immunologic defects are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:improvement of epimetaphyseal changes with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:in severe attacks, hemiplegia or coma may last days to weeks
n1=en:no consistent dysmorphic facial phenotype | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:inborn error of the pyrimidine degradation pathway
n1=en:no consistent dysmorphic facial phenotype | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence 1/100,000 - 1/200,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence of 0.51 per million in france
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence of 1 in 25,000 livebirths
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence of 1 in 276,000 in the netherlands
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence of 1 in 3,900 births among jewish persons
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incidence of mh in anesthetized children is 1 in 15,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incomplete penetrance in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incomplete, age-associated penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:incompletely penetrant phenotype in heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:incompletely penetrant phenotype in heterozygotes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased aneuploidy in offspring
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased male-to-female ratio (3-4 to 1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased prevalence in persons of ashkenazi jewish descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased risk of early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:increased risk of miscarriage
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:infants are stillborn or die shortly after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:infants may have acute life-threatening crises
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:infants show normal size and appearance
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:initial hearing loss is mild progressing to severe or profound by the seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:intermediate levels of factor x in mildly symptomatic heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:isolated finding
n1=en:no consistent dysmorphic facial phenotype | n2=en:isolated finding | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:last name:pn:pt:^guardian or legally authorized representative:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:late-adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:later onset associated with milder severity has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:later onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:later onset in adolescence has rarely been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset in adolescence has rarely been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:later onset of ophthalmoparesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:left side involvement more frequent than right side involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:lesions provoked by friction, sun exposure, heat, and injury
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:lethal in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in males | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:levodopa-responsive
n1=en:no consistent dysmorphic facial phenotype | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:life-threatening infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:longer disease duration than creutzfeldt-jakob disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:loss of independent ambulation due to muscle weakness in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:lower limb involvement precedes upper limb involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:macular degeneration only occurs in some patients at very late age (over 70)
n1=en:no consistent dysmorphic facial phenotype | n2=en:macular degeneration only occurs in some patients at very late age (over 70) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:majority of affected individuals are female (85%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:majority of cases are sporadic, some autosomal dominant families have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:majority of cases in manitoba indians, northeastern manitoba, canada
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:males more affected than females (2 to 2.5:1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:males mores severely affected than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:many patients become wheelchair-bound by second or third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:marked favorable response to l-dopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:may be lethal in infancy if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:may be x-linked
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be x-linked | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:may show good response to levodopa
n1=en:no consistent dysmorphic facial phenotype | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mean age at onset 57-60 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mean age at onset is 10.4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mean age of onset 21 years (range 14-35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mean age of onset 30 years (range first to seventh decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mean age of onset 34 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mechanical ventilation may be required
n1=en:no consistent dysmorphic facial phenotype | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:medial onset of end stage renal disease 13 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:median survival 5.7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:metabolic rate^resting:engrat:pt:^patient:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:metabolic rate^resting:engrat:pt:^patient:qn | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mild phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild phenotype | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:milder expression in female heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:more common in females (male:female ratio 4:1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:more common in men (9:1 male:female ratio)
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most affected males die of respiratory failure within the first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most cases do not have mutations in the mapt gene, but map to chromosome 17q
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most cases sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most common inherited ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients are clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients are stillborn or die in immediate neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients become wheelchair-bound in the second or third decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients die in the first months or years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in the first months or years of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients die in the neonatal period due to respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:most patients remain ambulatory in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mother who carries the mutation is clinically unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:motor fluctuations
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:motor neuropathy more prominent than sensory neuropathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:motor symptoms develop later (about 5 years into illness)
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:mousy odor
n1=en:no consistent dysmorphic facial phenotype | n2=en:mousy odor | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:multiple seizures daily at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:muscle weakness increases with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:neonatal severe hyperparathyroidism in homozygotes (239200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:neurologic deterioration is severe after age 2 to 2.5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:neurologic symptoms are not always present or may appear late
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:no abnormalities of hair, teeth, or bones
n1=en:no consistent dysmorphic facial phenotype | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:no laterality defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:no laterality defects | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:no phenotypic manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:no preceding skin inflammatory stage
n1=en:no consistent dysmorphic facial phenotype | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:non-tender
n1=en:no consistent dysmorphic facial phenotype | n2=en:non-tender | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:nonprogressive in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonprogressive in most patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:nonprogressive or slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:nonprogressive or very slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonprogressive or very slowly progressive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:normal sialophorin gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:not all patients have dysmorphic facial features
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have dysmorphic facial features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:occurs during pregnancy, most often in the third trimester
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:often identified in newborn period
n1=en:no consistent dysmorphic facial phenotype | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one 3-generation italian family has been described (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 3-generation italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one consanguineous pakistani family has been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one consanguineous pakistani family has been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family and 2 unrelated patients have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family has been reported (as of august 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family has been reported (as of curation date may, 2013) onset in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family has been reported (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family has been reported (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family of algerian descent has been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family reported (last curated june 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family reported (last curated november 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family with a cacna1b mutation has been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a cacna1b mutation has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one family with a fatal subacute encephalopathy has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
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:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one large 4-generation uruguayan family reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient has been reported (as of august 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient has been reported (last curated january 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient has been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient was asymptomatic and detected by neonatal screening
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient was asymptomatic and detected by neonatal screening | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient with a de novo mutation has been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with a de novo mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient with limited clinical information has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one patient with normal cognition has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons
n1=en:no consistent dysmorphic facial phenotype | n2=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one spanish family has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:one-third of cases are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:only 46,xy individuals are affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset about 6 months of age after normal growth and development in the first few months of life
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset after age 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset at day 1 of life has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset before age 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset between 28-32 weeks of gestation
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 28-32 weeks of gestation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset between 5 and 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset between 7 and 18 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset between age 30-50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in adulthood (third to fourth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in childhood (range 4 to 12 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in childhood (range birth to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range birth to 10 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in childhood (range infancy to 14 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range infancy to 14 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in childhood or adolescence in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in childhood or young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in early adulthood (average 26 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in early childhood to puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in first decade (as early as infancy in some)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in first decade (birth to age 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in first months or years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in neonatal period or before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in neonatal period or early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in second and third decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in the first few months of life patients may need lifelong total parenteral nutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in the sixth or seventh decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in utero in severely affected patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in utero in severely affected patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset in young adulthood (range 18 to 23 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of ataxia in the fifties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of blistering skin in infancy with improvement over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of blistering skin in infancy with improvement over time | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of cardiac symptoms in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of contractures in utero
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of deafness in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of disease 3-30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of disease in fourth or fifth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of disease in late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of dystonia is in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of gait abnormalities at 8 to 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of hearing loss in first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of hearing loss in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of hemolytic anemia shortly after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of joint pain in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of linear striations between 5 months and 6 years (only in affected females)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of liver involvement in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of mild symptoms in first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of neurologic symptoms often by 30 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of other symptoms in adolescence or early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of palmoplantar hyperkeratosis 7-8 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of proteinuria in the second to fourth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of seizures between 9 and 12 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of slowly progressive spastic paraplegia in first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of spastic paraplegia in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of symptoms 2-4 weeks of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of symptoms at 2-4 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of symptoms in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset of tremor usually before onset of seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset ranges from 2 days to 7 months (most at 2-3 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset ranges from childhood to young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset ranges from early childhood to adulthood (usually before age 15)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset ranges from first to third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset typically in childhood although onset in late adolescence or early adulthood has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset usually before age 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset usually in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset usually in adulthood although childhood onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset usually in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:onset usually in second or third decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)
n1=en:no consistent dysmorphic facial phenotype | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:pathogenic cag repeat length is 51 to 78 triplets
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients develop multiple tumors
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients have no abnormalities of hair, teeth, or bone
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients have normal pituitary function
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients may have benign course until late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients may have recurrent infections due to immunosuppressive therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients may present with either renal or neurologic symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients remain ambulatory
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:patients with meb may acquire ability to walk and a few words
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:performing laboratory phone:tele:pt:facility:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:persistent bleeding after trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:phenotypic overlap with desbuquois dysplasia (251450)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:phenotypic overlap with fhm1 (141500) and sca6 (183086)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:poor or no response to glucocorticoid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:poor response to acetylcholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:poor response to g-csf treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:poor response to l-dopa
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:poor response to the c5 inhibitor eculizumab
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:possible autosomal dominant (165199) and autosomal recessive (258650) forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:precipitated by sleep deprivation
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:precipitation by pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:preferably treated with iodine supplementation rather than thyroid hormone replacement
n1=en:no consistent dysmorphic facial phenotype | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prelingual onset in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:presentation at 3-6 weeks of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence in norway is 1 in 80,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence in taiwan is 1 in 132,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence is estimated to be 1 in 1,100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence of 0.5 to 1 in 1,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence of 1 in 2,833 in zimbabwe
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence of 1 in 50,000-70,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence ranges from 1 in 12,000 to 1 in 50,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prevalence rates average 10-20% of the general population over age 60
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:prognosis good
n1=en:no consistent dysmorphic facial phenotype | n2=en:prognosis good | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:progression more frequent in men than women
n1=en:no consistent dysmorphic facial phenotype | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:progressive disease is seen in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:progressive disorder, with older patients exhibiting more severe symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:pseudomembrane formation triggered by injury, infection, irritation, surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent acute episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent bacterial infections with onset in the first or second year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent bacterial, viral, and fungal infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent episodes of liver failure during intercurrent infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:reduced penetrance (approximately 87%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:reference lab test identifier:id:xxx:reference lab test:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:renal involvement and coloboma may not be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:reticulate hyperpigmentation onset birth - 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:right side affected greater than left side
n1=en:no consistent dysmorphic facial phenotype | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:risk of death due to cardiac dysfunction
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of death due to cardiac dysfunction | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see 609888 for a discussion on leprosy susceptibility
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also a childhood-onset form (114100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also autosomal dominant peoa1 (157640)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also autosomal recessive sick sinus syndrome (sss1, 608567)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also junctional eb with pyloric atresia (226730)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also optic atrophy with deafness (125250), an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also the lethal neonatal (608836) and infantile (600649) forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see also x-linked leigh syndrome (312170)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:see cmt4a (214400) for autosomal recessive demyelinating forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:segmental distribution often affecting 1 limb
n1=en:no consistent dysmorphic facial phenotype | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizure onset in first months or years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizure severity and frequency tend to improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures and dystonia peak during childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures are followed by drowsiness in most cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures are poorly responsive to treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures become nearly continuous
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures easily controlled by medications
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures remit in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:seizures, recurrent, refractory
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:sensory loss is rapidly progressive and severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:severe course
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe course | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:severe hypertension develops in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe hypertension develops in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:severe involvement of legs
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:severe volume depletion
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:severity of skin symptoms may vary within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:short umbilical cord
n1=en:no consistent dysmorphic facial phenotype | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:sib a developed symptoms after routine mmr vaccination
n1=en:no consistent dysmorphic facial phenotype | n2=en:sib a developed symptoms after routine mmr vaccination | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:single umbilical artery
n1=en:no consistent dysmorphic facial phenotype | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
n1=en:no consistent dysmorphic facial phenotype | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:skeletal features are variably present
n1=en:no consistent dysmorphic facial phenotype | n2=en:skeletal features are variably present | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:skewed x-inactivation, with complete skewing in some individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:skin abnormalities can be present at birth or appear later in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:skin lesions tend to occur on distal extremities or at elbows and knees
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:solitary disease is more common in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:somatic or germline mosaicism may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some features are variable, even within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some heterozygous cpt2 mutation carriers may be symptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some laboratory abnormalities may fluctuate or improve with time
n1=en:no consistent dysmorphic facial phenotype | n2=en:some laboratory abnormalities may fluctuate or improve with time | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some mutation carriers have mild features of frontonasal dysplasia (613451)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients do not have dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients have a secreted but biologically inactive mutant leptin
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients have no or mild manifestations and normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may develop concurrent failure to thrive and dyslipidemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may have isolated myokymia
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may lose independent ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may respond to thiamine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may show a favorable response to oral coenzyme q10 supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may show deterioration with infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show deterioration with infections | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may show neurologic improvement late in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients may show response to immunosuppressive agents
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients present with spasticity, whereas others present with cerebellar ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients show a favorable response to sulfonylurea treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients show onset in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients survive infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
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:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:splenectomy increases thrombotic risk in these patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:spots occur in 95% of patients but can be absent
n1=en:no consistent dysmorphic facial phenotype | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:subtle personality and behavioral changes are presenting signs
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:sudden death due to cardiac arrhythmia may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:surviving males are postzygotic mosaic for ebp mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms are not apparent at rest
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms develop immediately after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms may decrease after age 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms precipitated by sudden movement, stress, exertion, fatigue
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms relieved by progesterone antagonist (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:symptoms remain focal
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:systemic iron overload due to ineffective erythropoiesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:teeth may undergo post-eruptive changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:the most studied group is efe pygmies from ituri forest in northeast zaire
n1=en:no consistent dysmorphic facial phenotype | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:this patient died at age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three affected sibs have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three families have been reported (as of december 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three families have been reported (as of september 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three girls from 2 unrelated families have been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three patients have been reported (as of october 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three unrelated families have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three unrelated families have been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:treatment with levodopa is not effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:treatment with oral coenzyme q may ameliorate symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:tremor may be elicited by movement or postural maintenance
n1=en:no consistent dysmorphic facial phenotype | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:tumor suppressor genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:tumor suppressor genes | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:tumors are microsatellite stable
n1=en:no consistent dysmorphic facial phenotype | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form
n1=en:no consistent dysmorphic facial phenotype | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two patients with point mutations in rad21 have been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two probands have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two subtypes, episodic (85% of patients) and chronic (15%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated chinese families have been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated families have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated families have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated families have been reported (last curated june 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated families have been reported (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated families have been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated girls reported (last curated october 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated patients have been reported (last curated december 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated patients have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:two unrelated patients reported (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:type 2n shows autosomal recessive inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:type 3 - brandywine isolate opalescent dentin (125500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:type ii is adult-onset (kanzaki disease, 609242)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:uncommon and rare features seen in the most severely affected patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus
n1=en:no consistent dysmorphic facial phenotype | 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=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually a sporadic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually follows a static course or is slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually lethal in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually presents in third to fourth decade (but onset can range from childhood to elderly)
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:usually sporadic, few cases described with autosomal dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset (childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset (late childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset (range 6 to 54 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset (range 8 to 60 years, mean 32)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset (usually 20 to 30 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset of neuropathy (range first to sixth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of neuropathy (range first to sixth decade) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset, but usually in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset, from first decade to fourth or fifth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, from first decade to fourth or fifth decade of life | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset, range from infancy to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age at onset, range infancy to adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age of onset (20 to 35 years old)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (20 to 35 years old) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age of onset (range 1 to 30 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable age of onset (range 4 to 47 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable clinical severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable expressivity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable expressivity in families
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable frequency and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable penetrance and expressivity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable phenotypic features cataloged depending on development of fetus or infant
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotypic features cataloged depending on development of fetus or infant | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable severity of brain malformations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:variable survival
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable survival | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:virtually all patients are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:virtually all patients are female | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:visceral manifestations are less apparent
n1=en:no consistent dysmorphic facial phenotype | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
n1=en:no consistent dysmorphic facial phenotype | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:warm weather and alcohol are alleviating factors
n1=en:no consistent dysmorphic facial phenotype | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:when present, onset of vestibular dysfunction in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:when present, onset of vestibular dysfunction in childhood | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:wide clinical variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:wide phenotypic variation
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:wide variability in severity of limb defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide variability in severity of limb defects | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:worsening of hand weakness with cold (in some)
n1=en:no consistent dysmorphic facial phenotype | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:worsening of symptoms during sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:younger onset rarely reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:younger onset rarely reported | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 32 / 0.744 ->
en:z allele most common, only in caucasians
n1=en:no consistent dysmorphic facial phenotype | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=32
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:14 patients in 8 recessive kindreds reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:23 patients from 2 kindreds reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:46,xy carriers are unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:46,xy carriers are unaffected | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:85-90% with manifestations in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:87% patients are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:87% patients are female | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:95% of cases are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:a subset of patients may have congenital abnormalities of the ocular anterior segment
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:about 10% of patients have a severe early onset in the first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:about half of patients become wheelchair bound after long duration
n1=en:no consistent dysmorphic facial phenotype | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adrenal insufficiency usually develops later (first decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset (27 to 48 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset (range 12 to 59 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset (range 19 to 48 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 19 to 48 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset (sixth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset of gait abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset of muscle symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:adult onset of symptoms has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:affected patients have various combinations of the main clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:affected, mild - 50-150 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:affects up to 10% of women in their reproductive years
n1=en:no consistent dysmorphic facial phenotype | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age at menarche:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age at onset 15 to 33 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age at onset ranges from 16 years to 65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age at onset ranges from first to sixth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age at onset ranges from neonatal to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age of onset 17 to 68 years (mean 39)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age of onset varies from 5-32 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset varies from 5-32 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:age of onset, 6-20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder is brugada syndrome (601144)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to androgen insensitivity syndrome (ais, 300068)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to autosomal recessive form (224900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to brachydactyly type b (113000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to glut1 deficiency syndrome 1 (606777)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to niemann-pick disease type a (257200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to northern epilepsy (610003)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to parkinson disease-1 (park1, 168601)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to the ivic syndrome (147750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic disorder to usher syndrome type 1f (602083)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to acrokeratosis verruciformis (101900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to aicardi-goutieres syndrome (225750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to cartilage-hair hypoplasia (250250)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to marshall syndrome (154780)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:allelic to robinow syndrome, autosomal recessive (268310)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:also called 'heterozygous osmed' and 'autosomal dominant osmed'
n1=en:no consistent dysmorphic facial phenotype | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:approximately 40% of patients die within newborn period
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:approximately half of the mutations are de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:associated with hemodialysis
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:associated with increasing age
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:associated with malignant hyperthermia (mhs, 145600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:associated with myoclonic epilepsy
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:association with autoimmune diseases
n1=en:no consistent dysmorphic facial phenotype | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:attack frequency may occur several times per week to once per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:attacks are not responsive to acetazolamide
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:attacks more common in women
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:average age at onset 18.6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:average disease duration of 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:axial skeleton most commonly affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:axial skeleton most commonly affected | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:basal cell neoplasms develop after second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on 13 patients in one family (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 13 patients in one family (last curated november 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on 2 reported patients (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on 2 unrelated chinese families (last curated july 2014).
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on four patients in a four generation family
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on one report of 3 consanguineous pakistani families (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 1 family (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family (last curated december 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 2 individuals (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 2 siblings and 1 patient (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 2 unrelated girls (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 unrelated girls (last curated august 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 3 unrelated children (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 3 unrelated children (last curated january 2016) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 4 unrelated patients (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 4 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)
n1=en:no consistent dysmorphic facial phenotype | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:benign trait
n1=en:no consistent dysmorphic facial phenotype | n2=en:benign trait | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:between 2 and 7% of children will develop afebrile seizure disorders later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:bimodal age of onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:bleeding is usually delayed-onset after challenge
n1=en:no consistent dysmorphic facial phenotype | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:blistering frequency may decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:capillary malformation are apparent at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cardiac features are observed in ~3% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cardiac manifestations are often fatal
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carnitine supplementation can prevent further episodes and declines in cardiac function
n1=en:no consistent dysmorphic facial phenotype | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carrier females are unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carrier females may have mild intellectual disability
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carrier females show no clinical phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cataracts are progressive but may vary between eyes of an individual
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:caused by a defect in bile acid transport
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:caused by inheritance of the mutation on the maternal allele (imprinting)
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:central apneic episodes may be fatal
n1=en:no consistent dysmorphic facial phenotype | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:chromosome rearrangements have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:chromosome rearrangements have been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:clinical overlap with charcot-marie-tooth disease type 2c (606071)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:clinical variability, both pure and complicated forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:clinically classified into classic, atypical, and intermediate phenotypes
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:codominant inheritance has been suggested
n1=en:no consistent dysmorphic facial phenotype | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:color vision defects may not be part of the phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
n1=en:no consistent dysmorphic facial phenotype | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:congenital linear skin defects may disappear within a few months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital linear skin defects may disappear within a few months of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:considered to be a manifestation of the caudal regression syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:cyp2d6 represents about 1% of total liver cytochrome p450 content
n1=en:no consistent dysmorphic facial phenotype | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:date of autopsy:date:pt:^patient:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death at 20 to 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death due to respiratory insufficiency within minutes to hours after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death in childhood may occur due to infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death in infancy due to hyperthermia or apnea
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death in the first months or years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in the first months or years of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death in utero (30%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death in utero or in the perinatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death may occur in childhood due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death often in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death often in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death secondary to respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death usually due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death usually in the first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:death usually occurs by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:decreased bilirubin concentration with phenobarbital administration
n1=en:no consistent dysmorphic facial phenotype | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:delayed psychomotor development apparent in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:deletions in naip gene (600355) found in 18% of sma2 patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:deletions occur de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:deletions occur de novo | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:despite voluminous steatorrhea, patients' growth and overall state of health is good
n1=en:no consistent dysmorphic facial phenotype | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:diabetes mellitus develops in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:diagnosis rarely made before the fourth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis rarely made before the fourth decade of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:diarrhea persists even with vigorous nursing
n1=en:no consistent dysmorphic facial phenotype | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:disease usually progresses in a cephalocaudal direction
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:distinct disorder from parkinson disease (168600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:distribution of lesions may be generalized, palmoplantar, or acral
n1=en:no consistent dysmorphic facial phenotype | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:dyskinesia may be precipitated by alcohol, stress, or fatigue
n1=en:no consistent dysmorphic facial phenotype | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:dysmorphic facial features reported in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:dystonia is usually focal or segmental
n1=en:no consistent dysmorphic facial phenotype | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:early age of onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:early age of onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:early death, usually before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:early onset (9-48 years, but reported up to 68 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:early onset of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset of symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:electroretinogram reduction as early as 4 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:estimated frequency 1/2000-1/4000 individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:estimated frequency of 1 in 40,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:estimated population frequency of 1 in 13,000-20,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated population frequency of 1 in 13,000-20,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:evidence of prenatal fractures
n1=en:no consistent dysmorphic facial phenotype | n2=en:evidence of prenatal fractures | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:exacerbation during febrile episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:excessive postsurgical blood loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:exercise intolerance often evident in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:expression more severe in females than males, except for mosaic males
n1=en:no consistent dysmorphic facial phenotype | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:extremely variable phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:fatal in first few months of life in most cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:favorable response to antibodies against tnf-alpha (tnfa, 191160)
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:favorable response to bh4
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:feeding difficulties in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:female carriers may have cardiac defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:females often show milder phenotype with later onset of cardiac symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:fetal death
n1=en:no consistent dysmorphic facial phenotype | n2=en:fetal death | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:fever, muscle cramping, and poor feeding remit by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:first identified in individuals of cypriot origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:five patients have been reported (as of april 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:five patients have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:five unrelated patients have been reported (as of december 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four cases have been reported, all female
n1=en:no consistent dysmorphic facial phenotype | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four families have been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four individual patients and 1 saudi family have been reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four major groups: early infantile, late infantile, juvenile, adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four patients from 3 families have been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four patients have been reported (last curated june 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:four sibs from the old order mennonite community has been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:frequency of attacks may decrease with age or during pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:frequency of infections decreases after 3 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (see bafme2, 607876)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (see bscl2, 269700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (see cmt2a 118210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (see hht1, 187300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (see, e.g., atfb3, 607554)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity (sli2 606712, sli3 607134)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:genetic heterogeneity, see evr1 (133780)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:gonadal mosaicism may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:gonadal mosaicism reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:group a, found in north american indians, has lactic acidosis and psychomotor retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:headache duration 4-72 hours
n1=en:no consistent dysmorphic facial phenotype | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hearing loss was progressive in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss was progressive in some patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hepatic failure develops in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:heterozygous mutation carriers may have late-onset of mild symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level
n1=en:no consistent dysmorphic facial phenotype | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:high frequency in tibetan individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:high frequency seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:high risk of death in infancy due to cardiac failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:highly variable age at onset (range 9 to 69 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:highly variable severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable severity | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:histologic features overlap with henoch-schonlein purpura (hspn)
n1=en:no consistent dysmorphic facial phenotype | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hyperkeratosis triggered by chronic mechanical irritation
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:hypothyroidism is less severe in individuals with high dietary iodine intake
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:imprinting at 11p15.5
n1=en:no consistent dysmorphic facial phenotype | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:in most cases capillary lesions are multifocal at birth and may increase in number with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence approximately 2-3/10,000 newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 1,000,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 100,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 120,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 250,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 300,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 39,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1 in 5,000-8,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of 1% in yarmouth county, nova scotia
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence of all forms of cjd is 0.5 to 1.5 per million per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence ranges from 1 in 238,095 to 1 in 300,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence ranges from 1 in 8,500 to 1 in 12,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incidence worldwide of 1 in 30,000 to 50,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:incomplete age-dependent penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete age-dependent penetrance | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency among jewish iranian individuals from isfahan
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency in ashkenazi jewish population
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in ashkenazi jewish population | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency in individuals of asian descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency in individuals originating from western scotland
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency in persian jews (1:1,300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased frequency in the state of bahia, brazil
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:increased spontaneous abortions in carrier mothers
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:infant death may occur secondary to sepsis
n1=en:no consistent dysmorphic facial phenotype | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:infantile, late-infantile, juvenile, and adult onset have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:inheritance may be x-linked dominant
n1=en:no consistent dysmorphic facial phenotype | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:intelligence is normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:intrafamilial variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:involuntary and nonvolitional phenomenon
n1=en:no consistent dysmorphic facial phenotype | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:joint replacement often necessary
n1=en:no consistent dysmorphic facial phenotype | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:juvenile form has onset between 4 and 19 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:keratitis-ichthyosis-deafness syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:kid syndrome and hid syndrome are identical at the molecular level
n1=en:no consistent dysmorphic facial phenotype | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:later onset (late childhood to young adult) has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:later onset has been reported (third or fourth decades)
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:later onset with a milder phenotype may also occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:lethal in 40% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:limited clinical information due to surgical removal of lens in affected individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:limited clinical information due to surgical removal of lens in affected individuals | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:limited clinical information provided
n1=en:no consistent dysmorphic facial phenotype | n2=en:limited clinical information provided | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:liver enzymes decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:liver involvement can range from mild to severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:long duration
n1=en:no consistent dysmorphic facial phenotype | n2=en:long duration | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:long headache duration (greater than 12 hours)
n1=en:no consistent dysmorphic facial phenotype | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:loss of ambulation within 10 years of onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:loss of independent ambulation (in 2 of 3 patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:loss of independent ambulation in the second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:majority are sporadic cases, affected sibs have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:majority of children die between 6 months and 5 yrs
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:majority of patients are stillborn or die before 5 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:male patients have more severe disease than female patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:manifestations present in second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be due to imprinting defect
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be exacerbated by febrile illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be induced by fever or hot bath
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be same disorder as autosomal recessive optic atrophy 3 (258501)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:may regress in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mean age at onset for variant cjd is 29 years (before age 45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mean age of death is 34 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mean age of onset 22 years (range 5-54)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mean age of onset 50 to 52 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mean age of onset 50.2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:median age at onset is 21 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:medullary thyroid cancer is aggressive and can occur in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mesomelia becomes more evident with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:metabolic decompensation, episodic
n1=en:no consistent dysmorphic facial phenotype | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mild manifestations in carrier females (cleft lip, cleft tongue)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mild symptoms may occur in teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mliii is a heterogeneous disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:more common in men than women
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in men than women | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:more common in women (90%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most cases result from de novo mutation or deletion of rai1 (607642)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most common age of clinical onset ranges from 16 to 33 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most common form of porphyria
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most common terminal deletion syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most patients die in first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most patients die within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most patients have adult onset of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:most reported cases come from the island of mauritius or nearby islands
n1=en:no consistent dysmorphic facial phenotype | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:motor delay
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor delay | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:motor skills less affected than cognitive skills
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:motor symptoms are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:multiple congenital anomalies
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple congenital anomalies | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:multisystem decompensation in response to viral infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:multisystem decompensation in response to viral infection | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:mutations show partial penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:nails may be intermittently involved
n1=en:no consistent dysmorphic facial phenotype | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:natural aversion to carbohydrates and favoring of protein
n1=en:no consistent dysmorphic facial phenotype | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:neurologic dysfunction is infrequent and associated with delayed diagnosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:neurologic features occur later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:no increased fragility of hair
n1=en:no consistent dysmorphic facial phenotype | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:no mutations reported in la reunion island patients (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:no phenotype in heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:nonreflex epilepsy may occur later in 16 to 38% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:nonsyndromic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:normal alleles have 4 to 18 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:normal at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:normal development before onset of seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal development before onset of seizures | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:normal intelligence in majority
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:nphp shows autosomal recessive inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:occurs in women and is triggered by pregnancy or estrogen therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:often associated with syringomyelia (186700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one amish family has been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one brazilian family with 12 affected individuals reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one chinese family has been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous arab israeli family has been reported (last curated february, 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous costa rican family has been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous costa rican family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous pakistani has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one consanguineous turkish family has been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family has been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family has been reported (last curated january 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family has been reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family with 3 affected girls has been reported (as of october 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one family with 4 affected sibs has been reported (as of april 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one indian family has been reported (as of october 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one korean family has been reported (as of november 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one large consanguineous arab muslim family has been reported (as of september 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one patient has been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one patient has been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one patient reported with slitrk1 mutation (as of january 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one patient with additional features of fanconi anemia has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one spanish family has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one spanish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one swedish patient has been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one swedish patient has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:one turkish girl has been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:only 10% develop hypertension at 18 years of age or less
n1=en:no consistent dysmorphic facial phenotype | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:only female patients reported (last curated october 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset - present at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset 13-15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset 14 months to 4 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset after puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset after puberty | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset age 20 to 51 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset age 32 to 45 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset at early age, associated with sudden death in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset before 18 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset between 13 to 37 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset between 2 and 4 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset between 3 and 8 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 3 and 8 months of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset between ages 16-55
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset between ages 5 and 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset early childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in childhood (later than in antenatal bartter syndrome 241200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in childhood (range 0.5 to 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in childhood or early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in early childhood (infancy to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in early to late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in first decade (birth to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in infancy (average 4 months, but may be earlier)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in infancy and third decade had been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in late childhood or early teens
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in second half of the first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset in the perinatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset late childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset may also occur in early infancy, adolescence, or adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of arthritis in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of diabetes at less than 25 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of diabetes at less than 25 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of disease 3-8 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of disease after fourth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of dystonia at 12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of edema in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of fractures 4-18 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of gaze palsy at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of hand involvement at 14 to 60 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of illness often associated with acute infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of kyphosis in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of lesions may occur in early childhood or as late as the seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lesions may occur in early childhood or as late as the seventh decade | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of myoclonus later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of neurologic events can occur between 4 and 35 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of skin manifestations from birth to puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of symptoms in childhood with stiff, painful joints
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of symptoms in third to sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of symptoms within the first 2 decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset of visual loss in the first or second decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of visual loss in the first or second decades | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually after age 40
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually before age 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually between 30 and 50 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually in childhood (infancy to teens)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually in the first decade (range 0.8 to 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:onset usually within first weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:ophthalmologic signs onset in first to sixth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:pain most commonly affects the trunk, extremities, pelvic region, buttocks
n1=en:no consistent dysmorphic facial phenotype | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:partial factor viii deficiency in heterozygous carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:pathogenic alleles contain 71 to 1,300 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients between 30 and 60 years have discomfort with prolonged standing
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients have severe anemia requiring regular transfusions for normal activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients may or may not have dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients often become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients show sorbitol and glycerol intolerance
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients with longer disease duration show motor neuron involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients with null mutations have neonatal onset within 72 hours of birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:patients with residual enzyme activity have childhood or adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes
n1=en:no consistent dysmorphic facial phenotype | n2=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:pedigrees compatible with autosomal dominant inheritance have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:penetrance is usually complete by age 65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:penetrance of disease is complete between 30 and 40 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:perinatal lethality
n1=en:no consistent dysmorphic facial phenotype | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:persistent bleeding after injury or surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:persistent exposure to fructose leads to chronic liver and kidney complications
n1=en:no consistent dysmorphic facial phenotype | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:phenotype is classically defined as aplasia cutis and transverse limb defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:phenotypically indistinguishable from hemophilia a (306700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:pigmentary abnormalities apparent at birth or in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:polg mutations account for approximately 45% of all peo cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:poor response to acetylcholinesterase inhibitors or cholinergic agents
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prenatal or neonatal onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:present at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:present at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:presentation in childhood includes waddling gait and knee pain/stiffness
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:presenting symptoms in the upper body
n1=en:no consistent dysmorphic facial phenotype | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prevalence approximately 1 in 4,000 males
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prevalence in slovenia is 1 in 43,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prevalence is estimated to be 1 in 150,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prevalence of 1 in 100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prevalent in newfoundland
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:profound dementia and death usually occurs by age 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progresses through puberty, then stabilizes
n1=en:no consistent dysmorphic facial phenotype | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progressive clinical course with onset in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progressive disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progressive disorder, usually with rapid, relentless course
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:progressive or slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:prominent psychiatric symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:psychiatric symptoms may be the presenting sign
n1=en:no consistent dysmorphic facial phenotype | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:radioresistant dna synthesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:rapidly progressive neonatal onset with early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:rarely reported in infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
n1=en:no consistent dysmorphic facial phenotype | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:recessive inheritance is rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:recessive inheritance is rare | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:reduced penetrance (89%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:relatively mild course
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively mild course | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:relatively mild phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:renal anomalies are not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:repeat is unstable if > 52 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:responsive to high-dose biotin or biotin/thiamine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:responsive to oral mannose therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:risk of affected offspring in paternal translocation carrier - 0-7%
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:secondary hemorrhage
n1=en:no consistent dysmorphic facial phenotype | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see 255160 for an autosomal recessive form
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also an adult-onset form (213600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also autosomal form, 146450, and another x-linked form, 300758
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also benign familial infantile convulsions (bfic1, 601764)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also facial hemihypertrophy (133900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also simplex eb with pyloric atresia (612138)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see also the x-linked form (300291)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:see the more common methemoglobinemia types i and ii (250800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:seizures are sensitive to hyperventilation
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:seizures may be refractory
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:seizures remit in later childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:severe form with onset at 3 to 4 months of age and severe developmental delay
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:severely affected individuals may carry 2 mutated alleles
n1=en:no consistent dysmorphic facial phenotype | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:signs and symptoms depend on tumor location and activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:similar clinical phenotype to edsiii (130020)
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:six genetically confirmed patients have been reported (as of december 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:six patients have been reported (as of october 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skeletal abnormalities are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin lesions manifest in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin lesions resolve between 6 months and 2 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin lesions worsen with heat or sun exposure
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin manifestation less frequently observed in cold climates
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin neoplasia may appear later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin neoplasia may appear later in life | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:skin wrinkling improves with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:slow or nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:somatic mutations occur in adrenal tumor tissue (601639.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some carrier females may manifest mild symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some heterozygotes may have increased urinary excretion of cystine and may develop stones
n1=en:no consistent dysmorphic facial phenotype | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients acquire late ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients can attend special school
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients carry heterozygous mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have asymptomatic hypocalcemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have isolated cfeom
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have no manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients have subclinical exocrine pancreatic deficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients may have isolated cardiac involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients may have normal psychomotor development
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients may present with myopathic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients report seasonal variation in symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients show improvement in muscle power in the teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:some patients with heterozygous mutations may be symptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:spasticity is slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:spontaneous improvement or resolution of skin creases in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous improvement or resolution of skin creases in childhood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
n1=en:no consistent dysmorphic facial phenotype | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:stillborn or death shortly after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:subset of patients have cytochrome c oxidase deficiency (see 220110)
n1=en:no consistent dysmorphic facial phenotype | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:subset of patients have leigh syndrome (256000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:sudden cardiac death in some families
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:survival 30 to 40 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival 30 to 40 years after onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:survival to 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:survivors develop dysautonomia-like symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms are aggravated by febrile illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms begin focally, later segmental or generalized
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms improve during the summer
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms improve following sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms precipitated by stress, exertion, fatigue, alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:symptoms present as acute metabolic and clinical decompensation associated with infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms present as acute metabolic and clinical decompensation associated with infection | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:temperature instability
n1=en:no consistent dysmorphic facial phenotype | n2=en:temperature instability | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:therapy is placement of implantable cardioverter defibrillator (icd)
n1=en:no consistent dysmorphic facial phenotype | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:this specific disorder has been described in 1 family (ke)
n1=en:no consistent dysmorphic facial phenotype | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three families have been reported (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three families have been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three patients have been described (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three times more common in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:three times more common in males | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three unrelated families have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three unrelated families have been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three unrelated french families have been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated french families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:three unrelated patients have been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:thromboembolism is the most common cause of death
n1=en:no consistent dysmorphic facial phenotype | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:trauma, im injection, surgery can be foci of ectopic ossification
n1=en:no consistent dysmorphic facial phenotype | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:treatment with bh4 is effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:treatment with serine and glycine replacement may alleviate features if started at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:truncating mutations in crebbp found in 10% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two adult sibs have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two adult sibs have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two consanguineous turkish families have been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two families described (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two loci described - eec1 (129900) and eec3 (604292)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two sibs have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two sibs, a boy and a girl, have been reported (as of july 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two types - severe infantile form (type i) and milder form (type ii)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
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:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated families have been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated families have been reported (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated patients have been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated patients have been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:two unrelated patients with confirmed mutations have been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:type 2 porencephaly is usually symmetrical and results from developmental malformation
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:type 2cb is characterized by defective binding affinity for collagen types i and iii
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:type iia tends to have more severe phenotype with earlier onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:typical onset in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:unusual skill with jigsaw puzzle
n1=en:no consistent dysmorphic facial phenotype | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:urine turns dark on standing and alkalinization
n1=en:no consistent dysmorphic facial phenotype | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:usual onset under age 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:usually no increased fragility of hair
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:usually poor response to steroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:usually sporadic, but 1-2% of cases are familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (childhood to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range 2 to 48 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range adolescence to late adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range adolescence to late adulthood) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range first to fourth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range from early childhood to mid-adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range infancy to late adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset (range prenatal to mid-adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range prenatal to mid-adulthood) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset from childhood to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset, mostly in third decade (range teenage years to fourth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset, ranging from 18 months to 27 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age at onset, ranging from childhood to adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age of onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age of onset (range 1-40 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable age of onset, from 6 to 50 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable onset, from infancy to young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable onset, from infancy to young adulthood | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:variable penetrance of these features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:very rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:very rare | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:vhl type 2c - pheochromocytoma only
n1=en:no consistent dysmorphic facial phenotype | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:waddling gait
n1=en:no consistent dysmorphic facial phenotype | n2=en:waddling gait | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:waddling gate
n1=en:no consistent dysmorphic facial phenotype | n2=en:waddling gate | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:wasting of hands often occurs first
n1=en:no consistent dysmorphic facial phenotype | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:worldwide incidence of 1 in 185,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:x-linked inheritance could not be ruled out
n1=en:no consistent dysmorphic facial phenotype | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 31 / 0.721 ->
en:young-adult onset (18-30 years) of sensory ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=31
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:(3) intermediate
n1=en:no consistent dysmorphic facial phenotype | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:15% cases are familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:2 patients described
n1=en:no consistent dysmorphic facial phenotype | n2=en:2 patients described | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:2:1 female preponderance
n1=en:no consistent dysmorphic facial phenotype | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:2% due to paternal uniparental disomy of 15q11.2-q13
n1=en:no consistent dysmorphic facial phenotype | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:50% of females have learning disability or mild mental retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:a milder form has also been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:a second patient died at age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:a subset of patients have a 'visual variant'
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:acetazolamide is often effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:acute attacks lasting 24-48 hours
n1=en:no consistent dysmorphic facial phenotype | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:additional features are variably present
n1=en:no consistent dysmorphic facial phenotype | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult form onset has after 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult onset (range 40 to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult onset from second to seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult onset rarely reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult onset, usually 30's to 40's, but up to early 60's
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected individuals are highly prone to burn-related injuries
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected individuals have a relatively mild ichthyosis phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected males have onset of poor vision before the age of 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:affected males show onset of hematuria in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:age at death:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:age at diagnosis 26 +/- 14 years for recessive disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:age of onset 43-64 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:age of onset 6-12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 6-12 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:all cases from a remote village, sabinas, in northern mexico
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:all cases presumed de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:all reported cases have occurred sporadically
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to autosomal dominant form (129490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to long qt syndrome-1 (lqt1, 192500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to potassium-aggravated myotonia (608390)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorder to rett syndrome (312750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to deafness, autosomal recessive 12 (601386)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to leopard syndrome (151100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to mevalonic aciduria (610377)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to trp1 (190350)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:ambulation is usually maintained during adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:ambulation usually not achieved
n1=en:no consistent dysmorphic facial phenotype | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:anemia may show favorable response to alpha-interferon treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
n1=en:no consistent dysmorphic facial phenotype | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:arthralgia
n1=en:no consistent dysmorphic facial phenotype | n2=en:arthralgia | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:associated with idiopathic generalized epilepsy (ige, 600669)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:associated with increased paternal age
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:associated with tuberous sclerosis (191100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:asymptomatic if papillary zone is spared
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:ataxia is slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later
n1=en:no consistent dysmorphic facial phenotype | n2=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autoimmune manifestations are present in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:autoimmune manifestations are present in some patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive form (240220)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive inheritance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive inheritance has been reported (see 601253.0010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive inheritance has been reported in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive inheritance in one family (see 603342.0010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:average age of onset 57 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:average onset 6 months (range 3-9)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:average onset 6-10 months (range 3-24)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on 1 report of monozygotic twins (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on 3 patients from 2 families (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on one jordanian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on one large north american family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one large north american family (last curated august 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on report of 3 patients from 2 families (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 3 patients from 2 families (last curated march 2016) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:based on the report of one lebanese family (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:bone changes tend to develop after first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:breech presentation
n1=en:no consistent dysmorphic facial phenotype | n2=en:breech presentation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:broad-based gait
n1=en:no consistent dysmorphic facial phenotype | n2=en:broad-based gait | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:c10orf2 mutations account for approximately 35% of all peo cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:cataracts present at birth or develop in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:childhood onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:childhood or adolescent onset (usually less than 25 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:clinical features may vary
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:clonazepam and diazepam may be effective in preventing or lessening severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:complete penetrance but extreme variability of phenotypic expression
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:congenital - over 2,000 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:considered a benign disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:contiguous gene deletion syndrome at chromosome 6p
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:contiguous gene deletion syndrome of 5q31
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death about 20 years after symptom onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death at 10 to 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death before age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death by age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in childhood may occur due to end-stage renal disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in early infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in infancy common for patients with the classic neonatal form
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in infancy in 2 patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy or early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death in infancy secondary to respiratory insufficiency/pneumonia
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death often in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death often occurs during metabolic/acidotic crisis
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death usually by 1 year of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:death within first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within first year of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:deletions in naip gene (600355) found in 18% of smaii patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:diabetes status:prid:pt:^patient:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:diagnosis occurs between 23 and 33 weeks' gestation
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:disability by end of first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:disease is life-threatening if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:distinct from pili annulati (180600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:does not lead to hepatic failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:does not result in renal failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:dopa-responsive rigidity
n1=en:no consistent dysmorphic facial phenotype | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:dysmorphic features are mild or variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:dystonia and seizures may persist after resolution of episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:earlier onset is associated with more rapid progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:early childhood lethality may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:early childhood lethality may occur | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:early death from infection may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:early death often due to respiratory complications
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:early death often occurs from cardiac failure or infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:endocrine abnormalities confined to kidney
n1=en:no consistent dysmorphic facial phenotype | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:episodes triggered by fasting, illness, fever
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:erythema often triggered by sudden temperature change or emotional stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:exacerbation or regression during viral infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbation or regression during viral infection | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:facial palsy often transient in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:favorable response to alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:favorable response to ephedrine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:favorable response to flunarizine
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:favorable response to treatment with coenzyme q10
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to treatment with coenzyme q10 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:features are variable | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:feeding difficulties, including aspiration, ameliorate with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:female carriers may have mild mental retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:female carriers may show mild learning disabilities
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:female mutation carriers are less severely affected than male mutation carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:female mutation carriers are less severely affected than male mutation carriers | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:females more severely affected than males
n1=en:no consistent dysmorphic facial phenotype | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:few patients with mild to moderate mental retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:figure associated with report or note:-:point in time:^patient:-
n1=en:no consistent dysmorphic facial phenotype | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:first described in gypsy group from bulgaria
n1=en:no consistent dysmorphic facial phenotype | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:first fracture in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:five unrelated patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:food intolerance
n1=en:no consistent dysmorphic facial phenotype | n2=en:food intolerance | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:four families have been reported (last curated june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:four patients from 3 families have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:four patients from 3 families have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:four unrelated patients have been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:fractures and dental caries and premature secondary tooth loss occur in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:frequent neonatal sudden death
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:generalized dystonia in some cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic anticipation occurs
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see 601680)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see 604559)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see 613254)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see cmt2b2, 605589)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see cmt4b1, 601382)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see mada, 248370)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see madb, 608612)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see mcc2 deficiency 210210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genetic heterogeneity, some patients not linked to fgfr3
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:genomic duplications occur de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:genomic duplications occur de novo | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:glucocorticoid deficiency occurs in mid-childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:good response to vitamin d treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:growth retardation onset in utero
n1=en:no consistent dysmorphic facial phenotype | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hair, nails, and teeth are normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hearing loss and ocular findings are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:heterozygotes are not affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:heterozygous females may have situs inversus or other midline defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:heterozygous mutation carriers may have late-onset cardiac arrhythmias
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:heterozygous mutations reported, see 606609.0006 and 606609.0007
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high frequency in hutterite population
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high frequency in southern india (7% of all epilepsies)
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high frequency of absence seizures (several per day)
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high incidence among ashkenazi jews
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high incidence in sweden and finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high infant mortality due to malnutrition as well as complications of parenteral nutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high prevalence among individuals of middle eastern or african descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:high prevalence in the east asian population
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:highly variable frequency and duration of episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:highly variable pathologic phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hip joint replacement often necessary
n1=en:no consistent dysmorphic facial phenotype | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:homozygotes have more severe disease with earlier onset of thrombosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hyperlipidemia may be partially responsive to fat-restricted diet
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hyperpigmented patches increased in size and number with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:incidence - 1/16,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:incidence 1 in 8,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:incidence of 1 in 100,000 births in caucasians
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:incidence of 4 per million per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:incomplete penetrance of the cardiac phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance of the cardiac phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:increased bleeding after surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:increased prevalence in the french-canadian population
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:increased risk of myeloproliferative disorders in those with somatic mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:individuals develop ability to stand and walk
n1=en:no consistent dysmorphic facial phenotype | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infantile form has onset within first 6 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infantile onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile onset | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infantile onset with hepatic involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infants are stillborn or die before age 1
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infections may precipitate ketotic episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:infertility
n1=en:no consistent dysmorphic facial phenotype | n2=en:infertility | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:inflammatory arthritis may develop in 30% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord
n1=en:no consistent dysmorphic facial phenotype | n2=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:intrafamilial variability in degree of nail involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:intrafamilial variability in severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:intrafamilial variability in severity of hypothyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:joint symptoms begin in third or fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:juvenile onset 4 years to puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:laboratory findings are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:laryngeal edema can result in asphyxiation
n1=en:no consistent dysmorphic facial phenotype | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:late-adult onset (fifth to sixth decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:late-onset, slowly progressing form of retinitis pigmentosa
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:later onset may occur (1 to 11 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:lesions increase in size and number with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:live born infants die within few hours of birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:liver size returns to normal after 3 months to 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:liver symptoms improve with age and disappear after puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:loss of ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:major fluid shifts may occur in severe cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:majority are stillborn or die in early neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:majority cases are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:majority of children die before age 2
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:majority of patients are ambulatory
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:male predominance of 3:1 to 5:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:male to female ratio 4:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:male to female ratio 7:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:males carry mutations in the somatic mosaic state
n1=en:no consistent dysmorphic facial phenotype | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:manifestations of cushing syndrome may be mild
n1=en:no consistent dysmorphic facial phenotype | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:many cases due to de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:many patients recover normally
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:many patients require cardiac pacemakers
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:may be fatal in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:may be lethal if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:may coexist with autoimmune vitiligo or thyroiditis
n1=en:no consistent dysmorphic facial phenotype | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:may result in early death from severe diarrhea
n1=en:no consistent dysmorphic facial phenotype | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at diagnosis is 38 years(range 11-63 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 11.4 years (range 4 to 35)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 11.4 years (range 4 to 35) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 22 years (range 7 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 24 years (range 14 to 33 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 35 years (range 20-60)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 45 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age of onset 30 years (range 25-42)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age of onset 31 years (range 5-60)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mean age of onset 35-40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:meiotic origin >95% maternal, mostly meiosis i
n1=en:no consistent dysmorphic facial phenotype | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:metabolic encephalomyopathic crises often triggered by infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mild asymmetric regional disease (e.g. 180380.0029)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mildly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:mildly progressive | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:miscellaneous
n1=en:no consistent dysmorphic facial phenotype | n2=en:miscellaneous | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mode of inheritance is unclear
n1=en:no consistent dysmorphic facial phenotype | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:moderate age-related improvement of pancreatic function
n1=en:no consistent dysmorphic facial phenotype | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:more common in ashkenazi jews
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:more common in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in females | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most cases due to de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most cases occur de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most children become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most have resolution of symptoms between 6 and 12 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most patients become wheelchair-bound in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most patients die in the first days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in the first days of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most patients have severe streptococcus pneumoniae infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most patients need hip replacement by their mid-thirties
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:most patients remain ambulatory
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:multiple lesions in familial cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:muscle involvement shows onset at birth or in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:mutations are frequently maternally inherited
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutations are frequently maternally inherited | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:myoclonic seizures occur on awakening or within 2 hours of awakening
n1=en:no consistent dysmorphic facial phenotype | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
n1=en:no consistent dysmorphic facial phenotype | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:narcolepsy and deafness are the first symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:neonatal death secondary to pulmonary insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:neonatal onset of nephrotic syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:neuromuscular, cardiovascular, and infectious symptoms improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:neuropsychiatric manifestations are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:nine patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:no chronic or permanent liver damage
n1=en:no consistent dysmorphic facial phenotype | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:no family history, de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:no response to phenobarbital
n1=en:no consistent dysmorphic facial phenotype | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:nonspecific subtle dysmorphic facial features may be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonspecific subtle dysmorphic facial features may be present | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:normal neonatal course
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:not all patients have facial dysmorphism
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:not responsive to biotin treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:occurs most often in developing countries in tropical regions
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one 5-generation chinese family reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one chinese family has been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one consanguineous algerian family has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous algerian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one consanguineous family has been reported (last curated december 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one consanguineous saudi arabian family has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family and 1 unrelated patient have been reported (last curated january 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family and an unrelated patient have been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family has been described (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family has been reported (as of april 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family has been reported (last curated december 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family has been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family has been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family of mali origin has been reported (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family reported with piezo2 mutation (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family with 2 affected fetuses has been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one german family has been reported (as of september 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one japanese patient has been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient died at 17 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient has been reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient has been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient has been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:one patient has been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset 23 to 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset 6 to 18 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset at 4 to 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset at age 36 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset before 10 years of age in all patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset before 50 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset between 2-5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset between 6 and 12 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset between birth and 3 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset first to seventh decade with 30 to 40 year mode
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in 1st to 3rd decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in adolescence or young adulthood has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in childhood (6-7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in childhood (ages 1.5 to 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in childhood (mean age 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in childhood or adolescence (median age of 9 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in early childhood (infancy to age 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in fifth or sixth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in fifties or sixties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in first days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in first decade (average 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in first or second decade (range infancy to teenage years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first or second decade (range infancy to teenage years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in infancy or at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in infancy or early childhood (birth to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in infancy was reported in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in late childhood (after age 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late childhood (after age 10 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in late teens to twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in lower limbs
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in mid-forties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in mid-forties | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in newborns or infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in second decade, but sometimes earlier
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in the first months of life (3 to 7 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in the fourth to sixth decades (mean 40 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in the second to fourth decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset in utero or early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in utero or early infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of bone disease in second decade (range 18-44 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of chronic progressive polyneuropathy in late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of diabetes in neonatal period/ early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of dilated cardiomyopathy less than 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of disease around 10 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of fracture usually when child begins to walk
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of fractures in infancy to early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of gastrointestinal tumors typically occurs in the second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of hearing loss in childhood (range 7 to 13 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of lipodystrophy in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of malignancy can occur throughout life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of osteoarthritis in teens to early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of seizures in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of symptoms 2-12 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of symptoms 2-6 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset of symptoms in second to fifth decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in second to fifth decades of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset ranges from young adulthood to sixties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset usually in early childhood, although ranges from birth to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset usually in first or second decade (mean 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset usually in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:onset usually in the neonatal period although later onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:oral contraceptives may also cause symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:ossification occurs spontaneously during childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:ossification occurs spontaneously during childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:overall prevalence is between 0.5 and 14 per 100,000 people per year
n1=en:no consistent dysmorphic facial phenotype | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:overlapping clinical spectrum and allelic to masa syndrome (303350)
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:pathogenic alleles contain 75-11,000 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:pathogenic alleles have 19 to 33 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients are 46,xy individuals who may be phenotypically female
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are 46,xy individuals who may be phenotypically female | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients become wheelchair-bound about 10 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients develop acute symptoms under physiologic stress due to illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients develop acute symptoms under physiologic stress due to illness | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients do not exhibit skin pigmentation changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients do not exhibit skin pigmentation changes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients from old order amish community and turkey have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients have normal levels of vitamin a, beta-carotene, and zinc
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients may become wheelchair-bound as adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients may require implantable cardioverter defibrillators
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients need support with walking or are wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients walk on tips of toes with dorsal foot deviated laterally
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients who acquire ability to walk may lose it
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients with the autosomal recessive disorder have a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:peak age of onset in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:phenotypic overlap with parkinson disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:possible favorable response to ketogenic diet
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible favorable response to ketogenic diet | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:possible increase of aneuploidy in offspring
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:possibly x-linked recessive inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:preaxial involvement in approximately 60% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:preaxial involvement in approximately 60% of patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:precipitated by febrile illness and fasting
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:predominantly occurs in young males with high rate of atopic disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:premature death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:premature death may occur | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:presentation between 6-18 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:presentation in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:presents at a later stage than sporadic wilms tumor
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence 1-2% in northern european populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence of 1 in 10,000 african-americans
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence of 1 in 28,000 caucasians
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence of 1 in 300,000 in quebec
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence of 1 in 7,900 in cameroon
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:prevalence of 7 in 100,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:progression in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:progressive disease with onset in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:ptosis is usually presenting feature
n1=en:no consistent dysmorphic facial phenotype | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:rapid disease progression from ages 40 to 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:rapidly progressive episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:rare disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare disorder | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:relationship of rare neuropsychiatric signs to histidinemia is unclear
n1=en:no consistent dysmorphic facial phenotype | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:relatively benign course
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively benign course | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:relatively benign course after acute episodes in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:renal dysfunction normalizes in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:renal dysfunction normalizes in the first year of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:reported in individuals of amish or mennonite descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seasonal variation in severity of skin symptoms reported by some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:secondary features include arterial hypertension and renal involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:secondary prevention, avoid smoking, alcohol, and oxidants
n1=en:no consistent dysmorphic facial phenotype | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:see also autosomal dominant form (176860)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:see also autosomal recessive peob (258450)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:see also congenital stiff person syndrome (149400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seizure frequency decreases during early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seizures may remit with age (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seizures occur upon awakening
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seizures usually remit spontaneously by 12 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:seventy percent of cases are stillborn
n1=en:no consistent dysmorphic facial phenotype | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:several forms of autosomal recessive spastic paraplegia (see 270800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:sex ratio - 2 females to 1 male
n1=en:no consistent dysmorphic facial phenotype | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:single lesions in sporadic cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:six patients reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:skeletal and endocrine features have not been fully characterized in all of the patients reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:skin appears normal at birth, with development of generalized ichthyosis in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:skin lesions exacerbated by heat, exercise (sweating), and sunlight
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:skin manifestations may not be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:sleep disturbance or sleep apnea (obstructive, central, or mixed)
n1=en:no consistent dysmorphic facial phenotype | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:slow course of functional deterioration compared to severity of mri findings
n1=en:no consistent dysmorphic facial phenotype | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:slowly or non-progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some features may be progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes
n1=en:no consistent dysmorphic facial phenotype | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some individuals may be clinically asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some individuals may be clinically asymptomatic | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients develop diabetes mellitus as adolescents
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients do not manifest renal disease in the first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients have later onset and more variable phenotype (mngie)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients have onset in second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may benefit from coenzyme q10 treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may have a milder phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may need surgery or renal transplant
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may need surgery or renal transplant | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may not have recurrent infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may present with adult-onset small fiber neuropathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients may show mild decrease in head circumference over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients report cyclical changes in severity of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:some patients show normal development until onset of disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:sporadic occurrence is associated with advanced paternal age
n1=en:no consistent dysmorphic facial phenotype | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:stage iii, pseudostationary period (onset 2-10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:stage iv, late motor deterioration (when ambulation ceases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:subtype 3a comprises myoclonus and dementia
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:sudden infantile death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:symptoms benefit from sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:symptoms may be aggravated by acute illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:symptoms often improve gradually with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:symptoms relieved by ovarian suppression
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:t-cell lymphopenia is more severe early in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract
n1=en:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:therapy-induced dyskinesias
n1=en:no consistent dysmorphic facial phenotype | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three amish patients have been reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three patients from 1 mexican family has been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three patients from 2 unrelated families have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients from 2 unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three types of cystinosis are recognized
n1=en:no consistent dysmorphic facial phenotype | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three unrelated families have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three unrelated patients have been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:three unrelated patients have been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:toe-walking gait
n1=en:no consistent dysmorphic facial phenotype | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides
n1=en:no consistent dysmorphic facial phenotype | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:treatment with coq10 may result in some clinical improvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with coq10 may result in some clinical improvement | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:treatment with enzyme replacement therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two chinese sisters and one chinese woman have been described (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two families each with two affected children have been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families each with two affected children have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two families have been reported (as of 6/2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two families have been reported (september 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two families with different phenotypes have been reported (as of september 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two forms: iia (severe) and iib (mild)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two jordanian sibs have been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two pakistani families have been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two sibs have been reported (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated consanguineous families have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated families have been reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated families have been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated families have been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated japanese patients have been reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated patients have been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated patients have been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated patients have been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:type 1 - associated with osteogenesis imperfecta (125490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:type 2a is characterized by deficiency of high molecular weight monomers
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:uniparental disomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:up to 50% of patients may have various additional congenital anomalies
n1=en:no consistent dysmorphic facial phenotype | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:upper limb involvement occur later
n1=en:no consistent dysmorphic facial phenotype | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:usually occurs in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:usually sporadic disorder resulting from de novo 22q11.2 deletion
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
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:no consistent dysmorphic facial phenotype | 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=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset (range first to third decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset (range infancy to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset (range infancy to young adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range infancy to young adult) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset of symptoms, from second to fifth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of symptoms, from second to fifth decade of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset, early childhood to adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age at onset, first to second decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age of onset (range first to third decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable age of onset of parkinsonism (first decade to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable cardiac phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable cardiac phenotype | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable onset of seizures from neonatal to first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable onset of seizures from neonatal to first year of life | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable pattern of body involvement although symptoms may predominate in upper or lower body
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable phenotype within and between oi5 families
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype within and between oi5 families | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable presentation
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable presentation | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable progression rate
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable progression rate | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variable survival (some neonatal lethality)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior
n1=en:no consistent dysmorphic facial phenotype | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:vasculitic symptoms are associated with cold exposure (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:vast majority of heterozygotes are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:very variable phenotype, with some patients having many features and others only a few
n1=en:no consistent dysmorphic facial phenotype | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:visual symptoms present by late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:waddling gait, often presenting sign in second year
n1=en:no consistent dysmorphic facial phenotype | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:wheelchair use at 20-30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:worldwide prevalence of 1/100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 30 / 0.698 ->
en:young adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:young adult onset | rel=r_associated | relid=0 | w=30
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:'second wind' phenomenon
n1=en:no consistent dysmorphic facial phenotype | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl
n1=en:no consistent dysmorphic facial phenotype | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:'variant' form of x-linked cgd retains residual cytochrome b(-245)
n1=en:no consistent dysmorphic facial phenotype | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:(5) dihydrolipoyl dehydrogenase (e3)-deficient
n1=en:no consistent dysmorphic facial phenotype | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:25% due to mutations in ube3a (601623)
n1=en:no consistent dysmorphic facial phenotype | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:35% of patients have facial dysmorphism
n1=en:no consistent dysmorphic facial phenotype | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:98% of finnish cases due to one mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:abnormal morphogenesis of first and second branchial arches
n1=en:no consistent dysmorphic facial phenotype | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'
n1=en:no consistent dysmorphic facial phenotype | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:accounts for 30-50% of lymphomas in children
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:accounts for 70% of all usher syndrome patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
n1=en:no consistent dysmorphic facial phenotype | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:acquired protein c deficiency seen in liver disease, dic, and following surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:acute encephalopathic episodes may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adams-stokes syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:adams-stokes syndrome | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult form is asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset (mean 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset (mean of 30 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset (mid-forties)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset (range 28 to 55 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset (range 45 to 70 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:adult onset has been reported (age 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affected females have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affected individuals may have learning or behavioral problems during the period when seizures occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affected infants die in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affected infants often die in utero or in the postnatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affected males have serotonin-related disorders such as migraine headaches and diabetes
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:affects between 1 in 200 to 1 in 400 individuals of northern european descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age at onset 3 to 23 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age at onset in males ranges from 3 to 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset 5 to 19 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset between 6 and 45 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset between 6 and 45 years of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset from 18 to 45 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset usually 1 week to 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age of onset within the first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age on onset - adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age-related clinical course
n1=en:no consistent dysmorphic facial phenotype | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:age:time:pt:^patient:qn:calculated
n1=en:no consistent dysmorphic facial phenotype | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition
n1=en:no consistent dysmorphic facial phenotype | n2=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to adult polyglucosan body disease (263570)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to duane-radial ray syndrome (drrs, 607323)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to ifap syndrome (308205)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to schindler disease (609241)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to stickler syndrome 3 (184840)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic disorder to the zlotogora-ogur syndrome (225000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to brachydactyly, type a2 (112600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to mucolipidosis ii (252500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to myosin storage myopathy (608358)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
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:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:alopecia may spontaneously regress, become chronic, or spread diffusely
n1=en:no consistent dysmorphic facial phenotype | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:amelioration with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:amelioration with age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:an autosomal recessive form has been reported (269720)
n1=en:no consistent dysmorphic facial phenotype | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:anemia is transfusion-dependent
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:aortic dissection may occur in second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:approximately 35% of patients die during the first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:approximately 80% of cs patients have pten mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:assisted ambulation or wheelchair-dependent
n1=en:no consistent dysmorphic facial phenotype | n2=en:assisted ambulation or wheelchair-dependent | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:associated specifically with the gba d409h mutation (606463.0006)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:associated with fragile x syndrome (309550)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
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:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:asymmetric muscle involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:asymptomatic heterozygotes susceptible to lead toxicity
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:asymptomatic skin lesions begin on neck in third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive and dominant pedigrees described
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive cases tend to have a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive cytochrome b-positive cgd, type i (233700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive cytochrome b-positive cgd, type ii (233710)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive inheritance has also been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:autosomal recessive omodysplasia has also been described (258315)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:average age at onset between 40 and 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:average duration of illness 8 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on 2 reports of 3 patients (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on a report of 2 affected male cousins (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a report of 2 affected male cousins (last curated june 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on one report of brother and sister
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on report of 1 saudi arabian family (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on report of 2 consanguineous arab families (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on report of 2 probands (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 probands (last curated october 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on report of 2 unrelated patients (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 unrelated patients (last curated february 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:based on report of a hispanic mother and son (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of a hispanic mother and son (last curated february 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:because fetal chrng (100730) exhibits phenotypic rescue
n1=en:no consistent dysmorphic facial phenotype | n2=en:because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:benign, asymptomatic defect
n1=en:no consistent dysmorphic facial phenotype | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:bone anomalies may be seen on prenatal ultrasound (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:both autosomal dominant and autosomal recessive inheritance has been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:both mutations occurred de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:brain anomalies variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
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:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:bullae are located randomly in familial cases and apical in sporadic cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:carrier females may present with postpartum hyperammonemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:carrier frequency 1:1,000 in french-canadians in quebec
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:carrier frequency in finland 1/40
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:carrier frequency in finland is 1 in 230
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:caused by somatic mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:childhood onset has been reported in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:childhood onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:cholinesterase inhibitors may be beneficial
n1=en:no consistent dysmorphic facial phenotype | n2=en:cholinesterase inhibitors may be beneficial | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:classical form (type i), less severe with survival into adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:clinical variability seen in waardenburg syndrome type 1
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:cold temeratures exacerbate symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:coloboma is associated with larger microdeletion (490kb) of 11q13
n1=en:no consistent dysmorphic facial phenotype | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:common in afrikaan population, south africa
n1=en:no consistent dysmorphic facial phenotype | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:comprises several subtypes, including
n1=en:no consistent dysmorphic facial phenotype | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:contractures other than plantar are less common and less severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:date ultrasound:date:pt:^patient:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:de novo mutation identified in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:deafness tends to occur before other neurologic signs, except in patients with very early onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death in childhood is frequent due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death in childhood often results from respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death in infancy (patient b)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy (patient b) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death in the first decade, usually from liver failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death may occur in the first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death occurs 5 to 10 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death occurs early in neonatal period due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death occurs early in neonatal period due to respiratory failure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:death usually in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:decreased life expectancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)
n1=en:no consistent dysmorphic facial phenotype | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:described in individuals of roma gypsy origin (founder mutation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:described in single afrikaner family
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:diabetes diagnosed in second or third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diabetes diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:diagnosed in second or third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
n1=en:no consistent dysmorphic facial phenotype | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:die at birth or shortly after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:distinctive and stereotyped sequence of events
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:dryness and impaired vision in older adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:dryness and impaired vision in older adults | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:due to lack of epidermal ridging, patients lack fingerprints
n1=en:no consistent dysmorphic facial phenotype | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:earlier onset is associated with more aggressive disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:earlier onset is rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:early age of onset, usually less than 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:early death in some patients due to cardiorespiratory involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:early onset (1 month to 4 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:empiric risk for a sib of an affected child between 2 and 5%
n1=en:no consistent dysmorphic facial phenotype | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:endocrine and neurologic defects may become apparent later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:endocrine and neurologic defects may become apparent later in life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:episodes are triggered by cold exposure
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:episodes not triggered by alcohol, caffeine, or stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:episodes of fatigue or weakness (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:episodic decompensation is usually triggered by illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:exacerbated by stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:family a had a severe multisystem disorder resulting in death before age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:fatal if renal transplant is not performed
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:favorable response to l-dopa
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:features may be bilateral (15/24) or left side (9/24)
n1=en:no consistent dysmorphic facial phenotype | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)
n1=en:no consistent dysmorphic facial phenotype | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:female carriers may be affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:female carriers may have hearing loss and/or subclinical peripheral neuropathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:first described in acadian population of louisiana
n1=en:no consistent dysmorphic facial phenotype | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:five clinical variants of msud unassociated with genotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:five patients reported (as of march 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:for similar autosomal dominant form, see 162350
n1=en:no consistent dysmorphic facial phenotype | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:founder effect in irish traveler population
n1=en:no consistent dysmorphic facial phenotype | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four clinical forms of krabbe disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four patients from 3 unrelated families have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four patients from 3 unrelated families have been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four types of cgd with basically identical clinical phenotypes
n1=en:no consistent dysmorphic facial phenotype | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:four unrelated patients have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:fractures can occur in utero, during labor and delivery, or in newborn period
n1=en:no consistent dysmorphic facial phenotype | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:frequency increases with advancing age
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:frequently fatal within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:frequently occurs in navajo children, especially in western reservations
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:gait difficulties and beginning of cognitive decline in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:generally considered to be a benign disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic anticipation associated with progressive telomere shortening
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity (see 145410)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity (see 266900 for summary)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity (see rls2, 608831)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity (see, e.g., atfb1, 608583)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see (203300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see apmr1 (203650)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see ekd1 (128200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see mgr1 (157300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see sca1 (164400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:genetic heterogeneity, see spg5a (270800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:good response to immunotherapy (intravenous igg or plasmapheresis)
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:good response to steroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:hearing loss is pre- or perilingual in onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:hearing loss progresses to profound deafness
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:heterozygous mutation carriers may show mild symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:heterozygous mutation present in 5-7% of the japanese population
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:high frequency in the french-canadian population
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:high intrafamilial and interfamilial variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:high risk of recurrence after surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:highly penetrant, but low morbidity
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:highly variable phenotype, ranging from asymptomatic to death by age 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:highly variable phenotype, ranging from asymptomatic to severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:homozygous patients have earlier-onset and more severe disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:hypersensitivity to ionizing radiation
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:hypertension is presenting sign
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:hypogonadism reported in a large swedish kindred
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:in general, men have more severe disease than women
n1=en:no consistent dysmorphic facial phenotype | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence 2-5% of north american children
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence in japan is 1 in 57,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence of 1 in 1.5 million births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence of 1 in 20,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incidence of 1 in 3,500 boys
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incomplete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incomplete penetrance in some families
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:incomplete penetrance, some individuals have only emg changes without other clinical signs
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:increased frequency among japanese and chinese
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:increased rate of miscarriage in affected individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:increased tendency to chromosomal nondisjunction
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:infantile onset (in 1 patient)
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:infants may die from apnea or aspiration
n1=en:no consistent dysmorphic facial phenotype | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:initially normal rod responses may become significantly reduced at older age
n1=en:no consistent dysmorphic facial phenotype | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:intermittent exacerbations
n1=en:no consistent dysmorphic facial phenotype | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:joint dislocations become less frequent with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:joint laxity decreases with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:juvenile and adult forms are isolated glycerol kinase deficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:juvenile-onset (before 15 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:ketogenic diet may be effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:late onset combined immunodeficiency with allelic variant 102700.0020
n1=en:no consistent dysmorphic facial phenotype | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:late-adult onset (range 50 to 80 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:late-adult onset (usually after age 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:late-adult onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:later onset is associated with slower progression and lesser severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:lesions are present at birth or become apparent in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:lethal in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:life-threatening in infancy due to sepsis
n1=en:no consistent dysmorphic facial phenotype | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:likely allelic to sc phocomelia syndrome (269000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:limb malformations are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:liver disease may be the most predominant finding
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:lower limb involvement occurs before upper limb involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority die in neonatal period secondary to respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of cases are male
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of cases are secondary to de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of cases occur in brazilian population
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of eec cases appear to be secondary to tp63 (603273) mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of patients are pyridoxine-responsive
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of patients have normal intelligence
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of por deficiency patients have an abs-like phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:majority of wws patients die within the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:manifests in infancy (including neonatal lethal) or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:many cases are sporadic, but somatic and germline mosaicism has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:many cases due to de novo mutation or chromosome aberration
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:many features are present only in an untreated patient
n1=en:no consistent dysmorphic facial phenotype | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may be benign condition
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be benign condition | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may be precipitated by minor illness (e.g., viral infection, fever)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may be triggered by increased practice
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may fade with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:may fade with age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may have seasonal variance in severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may not be clinically manifest until middle life
n1=en:no consistent dysmorphic facial phenotype | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may occur cormorbidly with poland syndrome (173800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:may progress to upper limbs
n1=en:no consistent dysmorphic facial phenotype | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset 23.9 years (range 10 to 55 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset 28 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset 46.5 years (range 19-64)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset 48 years (range 38 to 64)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset of dementia is 57 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at onset of muscle disease is 42 years (range 24-61)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age at resolution of symptoms 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age of onset 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mean age of onset in third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
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:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:median age at diagnosis 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:median age of onset of leukoplakia - 7 years (range 1-26 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mild features such as digital clubbing may be apparent in older heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:more common in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:more common in males | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most affected infants die in the first month of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most case are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most cases are responsive to steroids
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most have onset in first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most individuals are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most individuals are wheelchair-bound or bedridden by adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients become seizure-free by age 3 or 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients die from heart failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients have a family history of fragile x syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most patients need assistance walking or are wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most retain independent ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:most severe form of gaucher disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mother had rubella infection during pregnancy with daughter
n1=en:no consistent dysmorphic facial phenotype | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:mucocutaneous immunodeficiency syndrome may be prominent
n1=en:no consistent dysmorphic facial phenotype | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:multiple spontaneous abortions in obligate carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:murcs association
n1=en:no consistent dysmorphic facial phenotype | n2=en:murcs association | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:nails, palms, and soles are spared in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:neonatal death
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal death | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:neonatal/infantile death in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:neurologic features have been diagnosed in ~30% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:neurologic features occur in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:neurologic symptoms may develop decades later
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:no clinical manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:no clinical manifestations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:no extraocular findings
n1=en:no consistent dysmorphic facial phenotype | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:no systemic manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:normal alleles contain 15 to 50 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:normal cag repeat length is 7 to 32 triplets
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:number of episodes varies from 1 to many (up to 20)
n1=en:no consistent dysmorphic facial phenotype | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:nyctalopia is a later feature of the disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:occurs most often between 5 and 15 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:occurs much more commonly in women
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:often fatal due in infancy due to intractable diarrhea
n1=en:no consistent dysmorphic facial phenotype | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:often results in death in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:often unilateral involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:old order amish, african american, and french patients have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:older individuals had moderate to severe hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one compound heterozygous patient reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one consanguineous arab family has been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous arab family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one consanguineous family has been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one consanguineous turkish family has been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (as of june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (as of september 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (last curated march 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (last curated october 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family has been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family of irish traveller descent described (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of irish traveller descent described (last curated september 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family reported (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.
n1=en:no consistent dysmorphic facial phenotype | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one lebanese family has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one of the most common autoimmune diseases
n1=en:no consistent dysmorphic facial phenotype | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one patient has been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one patient has been reported (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one patient has been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one patient showed improvement and was thriving at 46 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:one report of a large italian family from sardinia (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one report of a large italian family from sardinia (last curated december 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset <30 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset <30 months | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset 1-12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset 20-55 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset 30-40 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset 5 to 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset ages 2 to 14 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset around age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset at 4 to 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset at birth or in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset before age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset between 10 and 20 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset between 12 and 30 years (average 22)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset between age 2 and 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset birth to 6 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset from birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset from birth | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset from first to third decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset from first to third decades of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in childhood (3 to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in childhood (mean 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in childhood or as young adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in early childhood (2-4 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in early childhood (4 to 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in early infancy (2 to 3 months of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in feet and legs (peroneal distribution)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in first 2 decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in first month of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in fourth and fifth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in fourth to fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in infancy (3 months on)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in infancy or childhood (range 1 to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in infancy up to 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in late adulthood (44 to 73 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in late teens to early forties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in mid-adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in second decade or as young adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in teens or young adulthood (range 13 to 45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in third to fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset in utero or at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of acute encephalopathic attacks in childhood (3 to 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of calf hypotrophy may occur earlier
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of dementia in the thirties or forties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of hearing loss in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of hematologic or cns tumors in the first or second decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of insulin resistance may occur in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of muscle weakness around age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of neurologic features is variable, even within the same family (range early childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of night blindness varies among patients from early childhood to mid thirties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of optic atrophy in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of optic atrophy in first decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of seizures around 7 to 12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of seizures between 8 and 11 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of seizures in first 6 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of seizures in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of skin lesions at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of symptoms in first or second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset of symptoms in second decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset ranges from birth to age 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually at birth, but may occur later
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually before age 40 years (range 15 to 55)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in childhood (1 to 9 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in early adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in infancy or early childhood (9 months to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in late adolescence or early adulthood (range 15 to 45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in the neck
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:onset usually in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:opportunistic infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:opportunistic infections | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)
n1=en:no consistent dysmorphic facial phenotype | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:pain is relieved by antiinflammatory medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)
n1=en:no consistent dysmorphic facial phenotype | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients are prone to impaired thermoregulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients can have als, ftd, or both
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients do not have ectopia lentis
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients may have seizures only, dyskinesia only, or both
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients may show intermittent signs of improvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may show intermittent signs of improvement | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients need lifelong total parenteral nutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients older than 60 years have severe degenerative arthritis in the feet
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients retain ambulation even after long disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients with medication-resistant hypertension require bilateral adrenalectomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:peak age of onset in second decade (range childhood to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:pectus carinatum present in obligate carrier mothers
n1=en:no consistent dysmorphic facial phenotype | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:phenotypic similarities to costello syndrome (218040)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:polyhydramnios
n1=en:no consistent dysmorphic facial phenotype | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:polyps occur in teens
n1=en:no consistent dysmorphic facial phenotype | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:possible genetic heterogeneity (linkage to xp22 in some families)
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:postlingual onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:postlingual onset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:predominantly occurs in young males with a high rate of atopic disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prenatal diagnosis available
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prenatal diagnosis by ultrasound
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:present in jewish yemenite population
n1=en:no consistent dysmorphic facial phenotype | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence in sardinia is 1 in 14,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of 0.6 to 10 per 100,000 individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of 1 in 1,429 in tanzania
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of 1 in 227 hopi indians
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of 1 in 28,000 african-americans
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of 1 in 30,000 in northern europe
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of in 1 in 8,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalence of sleepwalking up to 26% in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalent in arabic, turkish, armenian, and sephardic jewish populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalent in north africa
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:prevalent in the old order amish in the u.s. and in finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:primarily diagnosed in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:progressive disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:progressive disorder due to secondary myopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:progressive sclerosis with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:provoked by crying or emotional upset
n1=en:no consistent dysmorphic facial phenotype | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:pulsatile headache lasts hours to days
n1=en:no consistent dysmorphic facial phenotype | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:rapidly progressive (6-24 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:rarely, patients may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:ratio female to male, 19:10 in index family
n1=en:no consistent dysmorphic facial phenotype | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:recessive inheritance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:recurrence of symptoms after cholecystectomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:recurrent bacterial infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:reduced exercise tolerance
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:reduced penetrance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:relatives with multiple small congenital pigmented nevi
n1=en:no consistent dysmorphic facial phenotype | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:renal failure in second or third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:reported in individuals of sephardic jewish ancestry
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:response to zinc supplementation
n1=en:no consistent dysmorphic facial phenotype | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:retinal degeneration not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:risk haplotype found in dutch families
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk haplotype found in dutch families | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:risk of sudden death due to cardiac defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:risk of sudden death with exertion
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also autosomal dominant form (128230)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also cblc (277400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also dominant deb (131750), an allelic disorder with a similar phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also dyggve-melchior-clausen disease (223800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also mmab (251110)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also pachyonychia congenita, type 3 (pc1, 167200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:see also two x-linked forms 300633 and 300758
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:seizures are fever-sensitive
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:seizures are provoked by immersion in hot or warm water
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:seizures may be refractory to treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may be refractory to treatment | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:seizures tend to remit later in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:severe disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe disorder | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:sex ratio of 4-4.5 males to 1 female
n1=en:no consistent dysmorphic facial phenotype | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:sib b did not receive mmr vaccination and was asymptomatic in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:significant phenotypic variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:sleepwalking triggered by alcohol, sleep deprivation, stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some heterozygous carriers may have mild manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients are asymptomatic and diagnosed incidentally
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients are asymptomatic and diagnosed incidentally | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients do not develop renal failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients exhibit features of more than 1 type of cardiomyopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients exhibit features of more than 1 type of cardiomyopathy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
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:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients have milder persistent blistering
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients may be asymptomatic and have only short telomeres
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may be asymptomatic and have only short telomeres | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients may have normal brain imaging
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients never achieve sitting
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients report increased tolerance to heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients require insulin for treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some patients with advanced loss of vision have normal eog
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:sparing of some nails in some individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:spasticity occurs before parkinsonism
n1=en:no consistent dysmorphic facial phenotype | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:static or slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:striking intrafamilial variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:surgical intervention is not always curative
n1=en:no consistent dysmorphic facial phenotype | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:survival past infancy is rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:survivors may develop renal insufficiency and hepatic dysfunction
n1=en:no consistent dysmorphic facial phenotype | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:symptoms improve with age, resulting in woolly hair with almost normal hair density
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:symptoms occur only during sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists
n1=en:no consistent dysmorphic facial phenotype | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:the lower the s-ado:saicar ratio, the more severe the phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:the lower the s-ado:saicar ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:this patient died at age 8 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three fetuses from 1 family have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three patients from 1 french canadian family have been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three unrelated caucasian patients have been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:three unrelated families have been reported (last curated june 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:tooth agenesis ranges from 1 missing tooth to marked oligodontia
n1=en:no consistent dysmorphic facial phenotype | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:tremor is aggravated by emotional stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:tumor predisposition syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two loci control synthesis of c4, c4a (120810) and c4b (120820)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
n1=en:no consistent dysmorphic facial phenotype | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two of 3 patients became wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two of 6 patients became wheelchair-bound by age 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two patients from 1 italian family have been reported (as of april 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two sibs and an unrelated fetus have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two sibs have been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two unrelated families have been reported (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two unrelated patients have been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:type a characterized by progressive myoclonic epilepsy
n1=en:no consistent dysmorphic facial phenotype | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:u.s. frequency higher in blacks than whites
n1=en:no consistent dysmorphic facial phenotype | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:up to 60% of female mutation carriers develop lobular breast cancer
n1=en:no consistent dysmorphic facial phenotype | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:upper urinary tract usually normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:ush3 cases account for 40% of all usher patients in finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:usually a manifestation of the carney complex (cnc1, 1609890)
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:usually favorable response to treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:usually occurs in children younger than 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:usually progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually progressive | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variability in age of onset and severity of disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:variability in age of onset and severity of disease | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age at onset (range 25 to 78 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age at onset (range birth to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age at onset (range childhood to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age at onset (range childhood to mid-sixties)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age of onset (childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable age of onset (infancy to 63 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical features | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable infectious phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable locations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable locations | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variable presentation and evolution of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variably severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variably severity | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:variant at may present with dystonia only
n1=en:no consistent dysmorphic facial phenotype | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:virtually all patients with this condition are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
n1=en:no consistent dysmorphic facial phenotype | 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=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:visual and hearing loss are slowly progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:visual field and color defects invariably present only in patients with advanced loss of vision
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:weakness during pregnancy in some affected females has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:wheelchair-bound average 12 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:wide range of onset from childhood to adult (10 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:women affected more than men (3:2)
n1=en:no consistent dysmorphic facial phenotype | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 29 / 0.674 ->
en:women are more often affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:women are more often affected | rel=r_associated | relid=0 | w=29
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:(1) classic severe (onset of symptoms 4 to 7 days of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:(4) thiamine-responsive form
n1=en:no consistent dysmorphic facial phenotype | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:13% of cases secondary to familial translocation (often maternally derived)
n1=en:no consistent dysmorphic facial phenotype | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:21% of hereditary wilms tumor are bilateral
n1=en:no consistent dysmorphic facial phenotype | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)
n1=en:no consistent dysmorphic facial phenotype | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:3 reported cases, 1 pedigree of affected sibs, neither parent affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
n1=en:no consistent dysmorphic facial phenotype | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:78% due to chromosome 14 maternal uniparental disomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:80% cases new mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:a subset of patients are responsive to vitamin b12 therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:a subset of patients have heterozygous mutations, which may predispose to disease development
n1=en:no consistent dysmorphic facial phenotype | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:abnormal transferrin pattern tends to improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:about 15% of female carriers develop renal insufficiency in the second or third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:absence of premature birth, low birthweight, and exposure to oxygen
n1=en:no consistent dysmorphic facial phenotype | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:acquired disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:acquired disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:adult onset (45 to 76 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:adult onset (mean 27 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:adult onset (range 30 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:affected individuals may have more than 1 cardiac structural defect, or none at all
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:affected individuals remain ambulatory
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:affected males are somatic mosaic for mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age at menopause:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age at onset 14 to 44 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age at onset 15 to 25 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age of onset - birth to 15 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age of onset from third to sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset from third to sixth decade of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:age of onset ranges from neonate to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:all affected individuals have been stillborn or died in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:all cases occur in old order amish, lancaster county, pennsylvania
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:all de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to nf1
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic disorders with clinical overlap include dss and cmt1b (118200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic to nephronophthisis 4 (606966)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic to waardenburg syndrome, type iia (193510)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:anemia is responsive to corticosteroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:approximately 50% of patients have situs inversus
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:approximately one-third of patients become seizure-free with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:arrhythmias detected prenatally (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:associated with advanced paternal age
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:associated with fragile x syndrome (300624)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583).
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:association between hla class ii alleles and presence of autoantibodies
n1=en:no consistent dysmorphic facial phenotype | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:aura may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:aura may occur | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:autosomal dominant omodysplasia has also been described (164745)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:average age at death is 37 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:average age of onset 15 years (range 4 to 40)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on 1 5-generation family (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on description of 1 family (last curated april 2006)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on one patient (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on report of 1 3-generation family (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on report of 1 family (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on report of 2 consanguineous pakistani families (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:based on report of one polish roma patient (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:begins in feet and legs (peroneal distribution)
n1=en:no consistent dysmorphic facial phenotype | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:benign condition
n1=en:no consistent dysmorphic facial phenotype | n2=en:benign condition | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:bilateral involvement in 10% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:birth date:time stamp -- date and time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:birth rate of 7.6 per 1,000,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:bleeding episodes occur early in life and may disappear with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:breech position
n1=en:no consistent dysmorphic facial phenotype | n2=en:breech position | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives
n1=en:no consistent dysmorphic facial phenotype | n2=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:can be effectively treated with n-carbamylglutamate
n1=en:no consistent dysmorphic facial phenotype | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:carrier females are normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:carrier females may show neuropsychologic impairment
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:cases reported in the old order amish and one japanese family (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:cataract evident at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataract evident at birth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:cataracts variably present at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:childhood or young adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:clinical improvement after 2 to 3 weeks of supportive care
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:clinical variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical variability | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:clinically mimics congenital torch infections (see 251290)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:complete manifestation in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:congenital disorders
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital disorders | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:connatal form (type ii), most severe with death in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:contractures at birth or difficulties in the neonatal period resolve
n1=en:no consistent dysmorphic facial phenotype | n2=en:contractures at birth or difficulties in the neonatal period resolve | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:corrected by bone marrow transplantation
n1=en:no consistent dysmorphic facial phenotype | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death before age 15 in iia
n1=en:no consistent dysmorphic facial phenotype | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in early childhood may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in first days of life (family b)
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in first days of life (family b) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in majority of infants soon after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in the fifth or sixth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in the mid-twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death in utero or early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death may occur in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually in infancy due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually in newborn period or infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually occurs before 5th decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually occurs in infancy or childhood if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually within first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death usually within first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:death within 3 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within 3 months of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:described in one 5-generation pakistani family (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:difficulty walking
n1=en:no consistent dysmorphic facial phenotype | n2=en:difficulty walking | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:discordant phenotype among monozygotic twins has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:distinct disorder from reduced zinc in breast milk (608118)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures
n1=en:no consistent dysmorphic facial phenotype | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:dysarthria, dysphonia, or cough precede onset of ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:dyskinesia may occur in homozygotes (1 reported case)
n1=en:no consistent dysmorphic facial phenotype | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:dysmorphic facial features are subtle
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early death due to infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death due to infection | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early death from respiratory failure may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early death in the first few weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early death occurs in affected infants (days to months after disease onset)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae
n1=en:no consistent dysmorphic facial phenotype | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early diagnosis and treatment prevent many complications
n1=en:no consistent dysmorphic facial phenotype | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early lethality in most cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:early onset (average 1 year)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:echocardiogram and ophthalmologic examination normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:eight unrelated patients have been reported (as of september 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:episodes are followed by exhaustion and sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:episodes occur 30 minutes to 3 hours after exposure to cold
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:erythema accompanied by stinging or burning sensation in some cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:erythema accompanied by stinging or burning sensation in some cases | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:family b had a milder phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:family b had a milder phenotype | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:favorable response to acetylcholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:favorable response to antiepileptic medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to antiepileptic medication | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:favorable response to cholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to cholinesterase inhibitors | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:features intermediate between demyelinating cmt and axonal cmt
n1=en:no consistent dysmorphic facial phenotype | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:feet are unaffected in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female carriers may show some manifestations, such as hearing impairment
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female mutation carriers have earlier age at onset compared to male mutation carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female preponderance
n1=en:no consistent dysmorphic facial phenotype | n2=en:female preponderance | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female to male ratio 5:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:female to male ratio 8-13:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:females demonstrate lyonization with corresponding phenotypic variation
n1=en:no consistent dysmorphic facial phenotype | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)
n1=en:no consistent dysmorphic facial phenotype | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:four patients from 2 unrelated families have been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:four unrelated families of caucasian european descent have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:gastrointestinal anomalies are not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:gender-specific phenotype (homozygous men are fertile)
n1=en:no consistent dysmorphic facial phenotype | n2=en:gender-specific phenotype (homozygous men are fertile) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (bor2, 610896)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (ccm2 603284, ccm3 603285)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see 259700)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see 606215)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see cnc2, 605244)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see enfl1, 600513)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see ofc1, 119530)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity (see rieg2, 601499)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity of axonal cmt (see cmt2a 118210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity, see aprm2 (610422)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity, see ppnad1 (610489)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:genetic heterogeneity, see spg3a (182600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:good response to phosphate treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:good seizure control with medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:great variation in extent of hypertrophy in mutation-positive individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:green jaundice occurs only in the context of liver failure or obstructive cholestasis
n1=en:no consistent dysmorphic facial phenotype | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:group c is relatively benign
n1=en:no consistent dysmorphic facial phenotype | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:has been described in patients of caucasus jewish origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:health data repository:id:pt:repository:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hearing loss is progressive and initially affects high-frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss is progressive and initially affects high-frequencies | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hearing loss was diagnosed between 3 months to 1 year of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss was diagnosed between 3 months to 1 year of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hemolysis may be exercise-induced
n1=en:no consistent dysmorphic facial phenotype | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct
n1=en:no consistent dysmorphic facial phenotype | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterogeneous disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterozygotes may exhibit syndromic manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterozygous females may have gout and/or sensorineural deafness
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hhs is a more severe variant, often resulting in death in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:high frequency among french-canadians
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:high incidence of e. coli sepsis in untreated neonates
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:highly variable phenotype, some adults may be asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hyperthermia in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:hypotonia may respond to treatment with pyridostigmine
n1=en:no consistent dysmorphic facial phenotype | n2=en:hypotonia may respond to treatment with pyridostigmine | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:icelandic families
n1=en:no consistent dysmorphic facial phenotype | n2=en:icelandic families | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:in some patients, qtc interval is prolonged only during exercise testing
n1=en:no consistent dysmorphic facial phenotype | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:in the absence of hydrops, death occurs within 3 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence - 1 in 25,000-100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence 1 in 20,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence 1 in 50,000-100,000 in western europe
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence in united states of 1 in 55,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence is less than 1 in 70,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence of 1 in 25,000 to 1 in 50,000 newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence of 1 in 320,000 births among non-jewish persons
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence of 1 in 6,000 males
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence of 1 per 10,000 births in japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence of 1/50,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:incomplete penetrance (range 13% to 77% by 50 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased frequency among individuals of east asian descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased frequency in finland (incidence 1:60,000 finnish newborns)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased prevalence in northern finland (7.3/100,000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased risk of post-splenectomy thrombotic complications
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of post-splenectomy thrombotic complications | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased sensitivity to heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:increased susceptibility to neisseria infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:individuals may accumulate more pigment in hair and eyes with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:infantile form usually leads to death by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:late infantile onset 6-24 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:later onset can also occur (up to age 17 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:later onset has been rarely reported (up to age 68 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:left side involvement associated with serious cardiac defect
n1=en:no consistent dysmorphic facial phenotype | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:lesions continue to grow until epiphyseal plate closure
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:lesions grow and spread with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:less than 50% penetrance in some families
n1=en:no consistent dysmorphic facial phenotype | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:loss initially affects mid and high frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:lymphedema occurs in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:lymphedema occurs in childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:major cause of death is heart failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority are isolated cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority of cases diagnosed at age 10-15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority of cases have bilateral involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority of patients die in neonatal period secondary to respiratory insufficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority of patients from italy and southwestern united states
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:majority of wilms tumors are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:male to female ratio 21:8
n1=en:no consistent dysmorphic facial phenotype | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:male-to-female ratio of 3:2 in childhood cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:males died in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:males more frequently have severe lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:males more frequently have severe lesions | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:malnutrition can be severe, requiring total parenteral nutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:many adults with typical form remain ambulatory
n1=en:no consistent dysmorphic facial phenotype | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:many cases are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:many patients become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:many patients die by 1-3 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:marked heterogeneity
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:marked intrafamilial variability of clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:marked phenotypic variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:maternal anticipation bias
n1=en:no consistent dysmorphic facial phenotype | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may be progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be progressive | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may be same entity as elejalde syndrome (256710)
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may be triggered by minor head trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may regress
n1=en:no consistent dysmorphic facial phenotype | n2=en:may regress | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:may respond to cholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:may respond to cholinesterase inhibitors | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mean age at onset of cerebellar ataxia is 52.8 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mean age of diagnosis 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mean age of onset, 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mental retardation, x-linked 102
n1=en:no consistent dysmorphic facial phenotype | n2=en:mental retardation, x-linked 102 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:microdeletion is approximately 1.5mb in length
n1=en:no consistent dysmorphic facial phenotype | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mild disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild disease course | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mild involvement of face and arms
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:minimal response to surfactant treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:more severe in males than in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mortality approximately 20% in first 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most carrier females have mild mental retardation and subtle facial changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most cases are autosomal dominant, recessive inheritance has rarely been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most cases result from a de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most common inherited giant platelet disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most common mutation is leu276ile (606596.0004)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most mutations occur de novo
n1=en:no consistent dysmorphic facial phenotype | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most patients die in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most patients die of hepatic failure by 9 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most patients die of renal failure in early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most pregnancies with affected fetuses resulted in elective termination
n1=en:no consistent dysmorphic facial phenotype | n2=en:most pregnancies with affected fetuses resulted in elective termination | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:most remit by 2 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:motor impairment more significant than sensory impairment
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:multiple gene loci involved in causation of schizophrenia
n1=en:no consistent dysmorphic facial phenotype | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:myoclonus is presenting symptom
n1=en:no consistent dysmorphic facial phenotype | n2=en:myoclonus is presenting symptom | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:neonatal and late-infantile onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:neurologic findings closely resemble those of huntington disease (hd, 143100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:neurologic involvement may occur in the absence of visceral involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:neurologic symptoms may occur after trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:newborn period is critical for survival
n1=en:no consistent dysmorphic facial phenotype | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:no abnormalities of skin, hair, teeth, or bones
n1=en:no consistent dysmorphic facial phenotype | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:no clinical details provided by the authors
n1=en:no consistent dysmorphic facial phenotype | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:no consistent disease phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:no consistent disease phenotype | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:no peripheral signs of hypothyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:no response or worsening with acetylcholinesterase inhibitors
n1=en:no consistent dysmorphic facial phenotype | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:normal range of expanded repeats 9-29, hd range 36-121
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:not responsive to steroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:occurs at age 20-50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:occurs in the absence of trauma
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:oculomotor apraxia is not always present
n1=en:no consistent dysmorphic facial phenotype | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:odor of 'sweaty feet'
n1=en:no consistent dysmorphic facial phenotype | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:often associated with klippel-feil anomaly (118100)
n1=en:no consistent dysmorphic facial phenotype | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one consanguineous family has been reported (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one consanguineous pakistani family has been described (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one consanguineous turkish family has been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family and 1 unrelated patient have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and 1 unrelated patient have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family from the old order amish has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family has been reported (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family of puerto rican descent has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one family with 6 probands described (as of september 2000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one french family has been reported (as of march 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one of the 2 most common forms of albinism in the world, along with oca2
n1=en:no consistent dysmorphic facial phenotype | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one pakistani family reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient has been reported (as of april 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient has been reported (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient studied at molecular level (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:one patient with normal psychomotor development has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with normal psychomotor development has been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:only women have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:only women have been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset 13 to 63 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset age 2 to 7 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset at 4 to 9 weeks of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset at age 10 to 14 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset at age 5 to 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset at or soon after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset between 18 and 65 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset between 35-43 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 35-43 years of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset between 6 and 16 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset between ages 12 and 20 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset between second to sixth decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset birth to early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset by 1 year of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in childhood (5 to 10 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in childhood, adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in early childhood after initial normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in early twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in first 2 decades (range 6 to 15 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in first decade (range 1 to 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade (range 1 to 7 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in first weeks or months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in infancy or early childhood (before age 3 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in infancy or late childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in males in first to third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in neonatal period or infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in second and third decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second and third decades of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in second decade of life progresses from mild to profound hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second decade of life progresses from mild to profound hearing loss | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in third decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in third or fourth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of acanthosis nigricans correlates with onset of diabetes
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of ataxia and neuropathy in early twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of bleeding symptoms in childhood or young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of cataracts in late adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of cough in early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of hearing loss ranges from childhood to young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of hyperuricemia or gout in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of joint contractures later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of neuromuscular symptoms between 6 months and 1 year of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of peripheral neuropathy in the first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of peripheral neuropathy in the first decade | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of peripheral neuropathy ranges from childhood to mid-adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset of symptoms in early childhood in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset often begins in childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset usually in childhood (range 6 months to 16 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset usually in the first 4 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:onset within first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:other half show head circumference more retarded than height
n1=en:no consistent dysmorphic facial phenotype | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:overall course less severe compared to patients with cfh (134370) mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients are often asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients are susceptible to sepsis and dehydration
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients become wheelchair-bound as adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients do not have clinical hypothyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients have a distinctive shallow u-shaped audiogram
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients look as if they have protein deficiency or malnutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients may present with autoimmune features or primary immunodeficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:performing laboratory:addr:pt:facility:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotype may or may not be consistent within a family.
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotypic overlap with denys-drash syndrome (194080).
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotypic variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotypic variability, intrafamilial
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotypic variation
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:phenotypically mild form of joubert syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:positive family history in 12-33% patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:possible x-linked recessive inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:present in infancy in all affected individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence estimated at 1 in 86,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence in finland is 1 in 25,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence of 1 in 3,900 in south africa
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence of 1 in 40,000 to 1 in 80,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence of 1 in 6,000 to 1 in 10,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence of approximately 1 in 2000 individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:prevalence of essential tremor ranges from 0.4 to 6% in the general population
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:primary teeth affected greater than secondary teeth
n1=en:no consistent dysmorphic facial phenotype | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:progressive cerebellar ataxia
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:progressive neurologic deterioration if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:progressive renal disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:protein c deficiency is found in 3-4% of patients with venous thromboembolism
n1=en:no consistent dysmorphic facial phenotype | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rapid progression in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rapidly progressive deterioration (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rare adult cases reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rare adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare adult onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rare autosomal dominant inheritance has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:reduced penetrance (75%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:reduced penetrance (about 60%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:relapsing-remitting course
n1=en:no consistent dysmorphic facial phenotype | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:reported cases all sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:responsive to treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:rickets and premature primary tooth loss occur in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:sando (607459) is a phenotypic variant of autosomal recessive peo
n1=en:no consistent dysmorphic facial phenotype | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see 177850 for description of heterozygous phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also autosomal dominant sick sinus syndrome (163800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also autosomal recessive form (612304)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also french-canadian type of leigh syndrome (220111)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also leptin deficiency (614962) and summary information in bmiq1 (606641)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also optic atrophy 1 (165500), an allelic disorder without deafness
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:see also the autosomal recessive form (243000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures are often refractory
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures are refractory to medication
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures are usually intractable
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures may be triggered by infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures may improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures may occur upon awakening or at any time during the day
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seizures precipitated by fatigue or alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:seven patients from 4 families in israel have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:seven patients from 4 families in israel have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:severe neurodegenerative course resulting in a comatose state or death
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:severity of hematologic disorder decreases with advancing age
n1=en:no consistent dysmorphic facial phenotype | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:short survival (less than 10 years after onset)
n1=en:no consistent dysmorphic facial phenotype | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:significant number of patients are stillborn or die in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:single mitochondrial dna deletions are found in sporadic kss patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:six patients from 4 families have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:skin lesions improve in the summer
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:small placenta
n1=en:no consistent dysmorphic facial phenotype | n2=en:small placenta | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some female patients can conceive after administration of gonadotropins
n1=en:no consistent dysmorphic facial phenotype | n2=en:some female patients can conceive after administration of gonadotropins | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients do not achieve independent ambulation
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients do not have thin corpus callosum
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients do not show neurologic abnormalities or dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients have resolution of symptoms in first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients may become bedridden 10 to 20 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients may have normal development until onset of seizures in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
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:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients may live to adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some patients show improvement during summer or with fever
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some phenotypic overlap with rett syndrome (312750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:some response to l-dopa therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:spontaneous resolution of seizures by 12 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:stable or slowly progressive course
n1=en:no consistent dysmorphic facial phenotype | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:stillbirth
n1=en:no consistent dysmorphic facial phenotype | n2=en:stillbirth | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:stillborn or lethal in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:sudden death
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms are not relieved by alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms are not relieved by alcohol | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms induced by strenuous exercise
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms may be precipitated by infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms of zinc deficiency occur only in exclusively breastfed infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms show insidious onset in the late first through third decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:symptoms vary from asymptomatic patients to patients with metabolic acidosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:systemic amyloid deposition may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:telangiectasia become evident between the second and eighth year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:the characteristic changes in the spine resolve by adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:there are several subtypes
n1=en:no consistent dysmorphic facial phenotype | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:thoracic abnormalities tend to improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:three forms of cjd: acquired (including variant), sporadic, and inherited
n1=en:no consistent dysmorphic facial phenotype | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:three patients from 2 families have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:three unrelated girls have been reported (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:three unrelated patients have been reported (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:three unrelated patients have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:treatment with betaine, especially for pyridoxine nonresponders
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:treatment with dichloroacetate (dca) prolongs survival
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:treatment with sulfonylurea can be effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:twinning due to superfetation
n1=en:no consistent dysmorphic facial phenotype | n2=en:twinning due to superfetation | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two arab muslim families have been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two brothers in a french family have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two brothers in a french family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two consanguineous pakistan families have been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous pakistan families have been described | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two families have been reported (as of may 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two families have been reported (last curated december 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two families have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two patients have been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two sibs have been reported (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two thirds of patients are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two types - lethal neonatal and less severe, late onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated boys have been reported (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated boys have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated consanguineous families have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated consanguineous families have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated consanguineous families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated families have been reported (as of july 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated families have been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated families have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated families have been reported to have hpca mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported to have hpca mutations | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated individuals have been reported (last curated january 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated patients had multiple congenital anomalies and died in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients had multiple congenital anomalies and died in early infancy | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated patients have been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:two unrelated patients with epileptic encephalopathy have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:type 2n is characterized by decreased binding affinity for factor viii
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:type b characterized by dementia, motor disturbances, and facial dyskinesia
n1=en:no consistent dysmorphic facial phenotype | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
n1=en:no consistent dysmorphic facial phenotype | 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=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:typically sporadic occurrence
n1=en:no consistent dysmorphic facial phenotype | n2=en:typically sporadic occurrence | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)
n1=en:no consistent dysmorphic facial phenotype | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:uncommon disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:usually adult onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually adult onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age at onset (infant to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age at onset (range teenage to adult years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range teenage to adult years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age at onset (range teens to late adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age at onset, but most often in the first 2 decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, but most often in the first 2 decades | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age of onset (range 13 to 67 years, median 48 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable age of onset (range early childhood to adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable clinical presentation ranging from acute onset to normal adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable clinical presentation that may change with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical presentation that may change with age | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable disease course
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable disease course | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable duration (minutes to hours)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable expression and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable expressivity of each feature
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable features and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable features and severity | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable number of nails involved
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable phenotypic expression
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:variable severity, intrafamilial
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:venous malformations previously referred to as angiomas or hemangiomas
n1=en:no consistent dysmorphic facial phenotype | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
n1=en:no consistent dysmorphic facial phenotype | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:vhl type 2b - renal carcinoma and pheochromocytoma
n1=en:no consistent dysmorphic facial phenotype | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:wheelchair-bound after 2 decades of disease onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:women may be mildly affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 28 / 0.651 ->
en:zinc deficiency in breastfed offspring resolves after weaning
n1=en:no consistent dysmorphic facial phenotype | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=28
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:1 in 17,000 in china
n1=en:no consistent dysmorphic facial phenotype | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:1 in 50,000 in korea
n1=en:no consistent dysmorphic facial phenotype | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:14% of patients survive with polyhydramnios
n1=en:no consistent dysmorphic facial phenotype | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:20-40% patients are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:70% due to de novo maternal deletion of 15q11.2-q13
n1=en:no consistent dysmorphic facial phenotype | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:94% develop hypertension at 18 years of age or less
n1=en:no consistent dysmorphic facial phenotype | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:a minority of patients have onset after age 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:a nonspecific marker of somatic mosaicism
n1=en:no consistent dysmorphic facial phenotype | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:about 50% of mutation carriers are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adolescent or adult onset associated with neuropsychiatric symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adult onset (20 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adult onset (25-45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adult onset (37 to 57 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adult onset (thirties to forties)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adult onset of neurologic symptoms has been reported in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:adults may lose ability to walk
n1=en:no consistent dysmorphic facial phenotype | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:affected females are infertile
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:affected fetuses frequently undergo spontaneous abortion
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected fetuses frequently undergo spontaneous abortion | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:affected individuals are negative for dermatographism
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals are negative for dermatographism | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:affected infants appear normal
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age at onset ranges from early childhood to after age 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age at onset ranges from early childhood to after age 50 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age of onset 30 to 60 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age of onset 36 to 55 years (mean 47)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age of onset of distal lower limb weakness 8-16 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:age:time:pt:^patient:qn:estimated
n1=en:no consistent dysmorphic facial phenotype | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:all cases sporadic (18 males, 7 females)
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:all features are unilateral
n1=en:no consistent dysmorphic facial phenotype | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:all reported cases have resulted from de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to autosomal dominant spg13 (605280)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to charcot-marie-tooth disease type 1a (118220)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to cln8 (600143)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to cmt4a (214400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to rippling muscle disease (rmd, 606072)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic disorder to type iv glycogen storage disease (232500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to ellis-van creveld syndrome (225500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to hawkinsinuria (140350)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to infantile sialic acid storage disorder (269920)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to pachyonychia congenita jackson-lawler type (167210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to tyrosinemia, type iii (276720)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:allelic to usher syndrome, type id (601067)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:anemia does not respond to alpha-interferon treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia
n1=en:no consistent dysmorphic facial phenotype | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:approximately 60% of cases are due to somatic mutations and are unilateral
n1=en:no consistent dysmorphic facial phenotype | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:arteriovenous malformations can occur throughout the body
n1=en:no consistent dysmorphic facial phenotype | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:associated with deletion at chromosome 2q37
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)
n1=en:no consistent dysmorphic facial phenotype | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:asymptomatic patients may show changes on sd-oct
n1=en:no consistent dysmorphic facial phenotype | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:attacks often drug-induced
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:autosomal dominant inheritance has been rarely reported (187800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:autosomal recessive disorder tends to be more severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:autosomal recessive inheritance has been reported in 1 case
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:autosomal recessive inheritance with earlier onset has been suggested
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:average age at onset 31 years (range 7 to 54)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on 1 4-generation chinese family
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 4-generation chinese family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on 1 large swiss german kindred (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 large swiss german kindred (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on one italian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one italian family (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on one report of 4 unrelated sporadic patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one report of 4 unrelated sporadic patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 consanguineous turkish family (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 family (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 family with 7 affected members
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 family with 7 affected members | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 japanese family (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 1 large 6-generation family (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 1 large 6-generation family (last curated july 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of 2 turkish sisters (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 turkish sisters (last curated july 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on report of one indian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of one indian family (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:bleeding after trauma or surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:both heterozygous and homozygous pax3 mutations have been found
n1=en:no consistent dysmorphic facial phenotype | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:both homozygous and heterozygous ednrb mutations have been found
n1=en:no consistent dysmorphic facial phenotype | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:both homozygous and heterozygous mutations in lrsam1 have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:candidiasis is restricted to nails of hands and feet
n1=en:no consistent dysmorphic facial phenotype | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cardiac and pulmonary dysfunction normalize in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac and pulmonary dysfunction normalize in the first year of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cardiomyopathy may develop later in the disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier females may have mild features
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier females may show mild mental retardation or learning disabilities
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier females show no phenotypic abnormalities, but may have learning difficulties
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier frequency 1:700 in bukhara jewish populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:carrier rate of 1 in 11 among old order amish
n1=en:no consistent dysmorphic facial phenotype | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:caused by constitutive activation of the avpr2 receptor
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cells of origin are part of the diffuse neuroendocrine system (dnes)
n1=en:no consistent dysmorphic facial phenotype | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies
n1=en:no consistent dysmorphic facial phenotype | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:chronic course with exacerbations and remissions
n1=en:no consistent dysmorphic facial phenotype | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical and biochemical abnormalities disappear with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical and pathologic features of both demyelinating and axonal cmt
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical features present only if mutation inherited on paternal allele
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical features present only if mutation inherited on paternal allele | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical onset within first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical overlap with dejerine-sottas syndrome (dss, 145900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinical presentation varies from asymptomatic to fulminant course
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:clinically unaffected heterozygotes may show changes on electroretinography
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:complementation group c (variant mliii, 252605)
n1=en:no consistent dysmorphic facial phenotype | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:complementation groups - complementation group a (classic mliii, 252600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:complete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete penetrance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:complete penetrance with variable expressivity
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:complete recovery during intervals
n1=en:no consistent dysmorphic facial phenotype | n2=en:complete recovery during intervals | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:compound heterozygosity common
n1=en:no consistent dysmorphic facial phenotype | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:condition is experienced by patients as harmless and is often discovered incidentally
n1=en:no consistent dysmorphic facial phenotype | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:congenital abnormality
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:congenital onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital onset | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:contiguous gene duplication syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:continuing ovulation and implantation after initiation of another pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:continuing ovulation and implantation after initiation of another pregnancy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:corneal steepening is proportional to the degree of axial foreshortening
n1=en:no consistent dysmorphic facial phenotype | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation
n1=en:no consistent dysmorphic facial phenotype | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:crisis precipitated by high altitude exposure
n1=en:no consistent dysmorphic facial phenotype | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cutaneous leiomyomas increase in number over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:de novo mutations occur almost exclusively on the paternally derived x chromosome
n1=en:no consistent dysmorphic facial phenotype | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death due to rapidly progressive pulmonary fibrosis in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death from pneumonia
n1=en:no consistent dysmorphic facial phenotype | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death from stroke if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:death from stroke if untreated | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death in neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death in untreated children
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in untreated children | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death often by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death often occurs in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death often occurs in the first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death often secondary to infectious disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death often secondary to pneumonia or congestive heart failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death secondary to respiratory infection or failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death usually by age 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:death within first months or years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:detected in 1/50,000 in neonatal screening programs
n1=en:no consistent dysmorphic facial phenotype | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:disease shows slow progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:disorder usually remains stable over time
n1=en:no consistent dysmorphic facial phenotype | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:distinct disorder from myasthenia gravis (mg, 254200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:dramatic late catch-up growth occurs in adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:drug-induced dyskinesias occur in a subset of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:dysmorphic facial features are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:earlier onset is associated with a more severe disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:early onset in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:early-onset associated with more severe course and early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:environmental triggers - cold and wet exposure
n1=en:no consistent dysmorphic facial phenotype | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:episode frequency is monthly to yearly, and decreases with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:estimated carrier frequency 1/100
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:estimated gene carrier frequency of 1 in 5,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:estimated incidence 1/20,000 - 1/40,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:evidence of incomplete penetrance in one family
n1=en:no consistent dysmorphic facial phenotype | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:evidence of systemic iron overload seen in 1 family
n1=en:no consistent dysmorphic facial phenotype | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:exacerbation at puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:excessive posttraumatic blood loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:exon 7 of smn1 is absent in 95.6% of sma1 patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:extreme phenotypic variability
n1=en:no consistent dysmorphic facial phenotype | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:familial (10%) and isolated cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:familial occurrence is rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:fatal multiorgan failure due to severe inflammatory response in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:fatal outcome if untreated
n1=en:no consistent dysmorphic facial phenotype | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable initial response to l-dopa
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable response of seizures to a ketogenic diet
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response of seizures to a ketogenic diet | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable response to 3,4-diaminopyridine
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable response to alcohol in about 50%
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable response to rituxan (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:favorable response to ursodeoxycholic acid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build
n1=en:no consistent dysmorphic facial phenotype | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:features usually appear during adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:feet are unaffected
n1=en:no consistent dysmorphic facial phenotype | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:female carriers exhibit short stature
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers exhibit short stature | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:female carriers may have short stature and premature ovarian failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:female to male ratio ranges from 2:1 to 4:1
n1=en:no consistent dysmorphic facial phenotype | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:fetal death usually occurs
n1=en:no consistent dysmorphic facial phenotype | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:five patients from 3 unrelated families have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five patients from 3 unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:five patients have been reported (as of 8/2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589
n1=en:no consistent dysmorphic facial phenotype | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four patients have been reported (as of december 2009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four patients have been reported from pakistan (as of march 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four unrelated families have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four unrelated patients have been reported (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four unrelated patients have been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:four unrelated patients have been reported (last curated september 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated patients have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:frequency and severity of seizures tends to decrease with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:frequent falls
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequent falls | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:frequently death in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:funduscopy before 2 years of age is unremarkable
n1=en:no consistent dysmorphic facial phenotype | n2=en:funduscopy before 2 years of age is unremarkable | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see 159900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see 213300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see 214300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see 304800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see cftd1, 255310)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see cms1a1, 605809)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see cmtdia 606483)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see coxpd1, 609060)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see hcfp2, 604185)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity (see lgmd1a 159000 for overview)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity of waardenburg syndrome type 2
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:genetic heterogeneity, see lgmd2a (253600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:germline or somatic mutations may cause the disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hair phenotype present at birth and involves entire scalp region
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:half of cases show retarded head circumference equal to height retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:headaches last hours to days
n1=en:no consistent dysmorphic facial phenotype | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hearing loss affects all frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hearing loss may be stable or progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hearing loss occurs later if at all
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hearing loss typically begins between 3 and 4 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:hematuria may become apparent after respiratory infections (synpharyngitic)
n1=en:no consistent dysmorphic facial phenotype | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:heterozygotes have half-normal levels of apob-containing lipoproteins
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:heterozygous carriers have an increased risk of metabolic dysfunction
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high frequency in equatorial africa
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high frequency in northeastern brazil
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency in northeastern brazil | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high incidence of diabetes mellitus noted in opll patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high prevalence in charlevoix-saguenay region of northeastern quebec
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high prevalence in holguin province of cuba
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:high prevalence in japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:highly variable expressivity within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable expressivity within families | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:highly variable severity of muscle weakness
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
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:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:improvement with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:improvement with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence 1 in 15,000-28,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence 1 in 6,000 to 1 in 8,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence 1-1.5/1,000 live births
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence 5-50 per million (children) and 10-40 per million (adults)
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence of 1 in 100,000 to 125,000 at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence of 1 in 150,000 live births in the general population
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence of 1 in 50,000 to 1 in 100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incidence of mh in anesthetized adults is 1 in 50,000-100,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:incomplete penetrance (about 80%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete penetrance (about 80%) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased frequency in ashkenazi jewish population (1/100 are carriers)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased frequency in ashkenazi jewish population and in finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased frequency in finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased frequency in the finnish population
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased prevalence among the finnish
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased prevalence in individuals of turkish descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased risk of developing early-onset aggressive cancers
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:increased susceptibility to infections
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:individuals do not develop erythrocytosis under hypoxic conditions
n1=en:no consistent dysmorphic facial phenotype | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:inflammatory bowel disease may develop in childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:inheritance pattern is unclear
n1=en:no consistent dysmorphic facial phenotype | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:intellectual disability is variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
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:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:intrafamilial variability in number of missing teeth
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:intrafamilial variation
n1=en:no consistent dysmorphic facial phenotype | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:jbts shows autosomal dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:later childhood onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:later onset of neurologic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:left sided involvement occurs more frequently
n1=en:no consistent dysmorphic facial phenotype | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:length of calorie fast:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:lesions appear in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:lesions may become more prominent with sun exposure
n1=en:no consistent dysmorphic facial phenotype | n2=en:lesions may become more prominent with sun exposure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:lethal
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:lethal in utero or in the perinatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in utero or in the perinatal period | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:lower limbs more severely affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:majority of cases (95%) are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:majority of cases in japan
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:majority of patients develop symptoms within the first few weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:males may be more affected than females
n1=en:no consistent dysmorphic facial phenotype | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:many cases result from de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:many patients are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)
n1=en:no consistent dysmorphic facial phenotype | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:may be fatal
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be fatal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:may be lethal in the neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:may result in sudden death
n1=en:no consistent dysmorphic facial phenotype | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset 27 years (range 9 to 42)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset 30.7 years (range 6 to 60 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset 33 years (range 20-60)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset 41 years (range 18 to 61)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 41 years (range 18 to 61) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset 66.8 years (range 47-77)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age at onset of bone disease is 40 years (range 23-65)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean age of onset about 62 years (45-79 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mean survival 5 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:median age of diagnosis is 28 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:median life expectancy, 13.4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mild expression in heterozygous carriers
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mild facial dysmorphism is associated with duplication of the flna gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:milder form with onset in childhood, absence seizures, and learning difficulties
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most affected infants die shortly after birth from respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most common episodic ataxia syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most patients are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most patients die in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:most remit by 6 weeks (1-6 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:muscle contractions in infancy occur in response to tactile stimulation or crying
n1=en:no consistent dysmorphic facial phenotype | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:muscle symptoms precede cardiac symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:muscle weakness occurs only in the presence of hyperthyroidism
n1=en:no consistent dysmorphic facial phenotype | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mutant alleles have 47 to 63 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:mutation in npr2 results in gain-of-function
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:myoclonus occurs at rest and with action
n1=en:no consistent dysmorphic facial phenotype | n2=en:myoclonus occurs at rest and with action | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:n-myc oncogene (164840) amplification is associated with poor prognosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:natural aversion to carbohydrates
n1=en:no consistent dysmorphic facial phenotype | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:near-normoglycemic remission for period of months to years without insulin treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:neuroendocrine recovery occurs in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:neurologic features are variable and not progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:neuropathy becomes apparent in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:no congenital form
n1=en:no consistent dysmorphic facial phenotype | n2=en:no congenital form | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:no male-to-male transmission
n1=en:no consistent dysmorphic facial phenotype | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:normal development between episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:normal female secondary sexual characteristics
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:normal first month
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal first month | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:normal neonatal blood phenylalanine has been reported in rare patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:not all patients have a myopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:not all patients have renal involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have renal involvement | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:not all patients have skeletal muscle symptoms or mental retardation
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:nystagmus may disappear by mid-childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:occasionally low-dose insulin required
n1=en:no consistent dysmorphic facial phenotype | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:occurs in full-term infants
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:occurs more frequently in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:older patients become wheelchair-dependent
n1=en:no consistent dysmorphic facial phenotype | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous family has been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous family of indian descent has been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous pakistani family has been reported (last curated june 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous pakistani family has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous pakistani family reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous turkish family has been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one consanguineous turkish family has been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family (4 affected members) has been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (as of 4/2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (as of january 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (last curated april 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (last curated august 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family has been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family of italian-american descent has been described
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family reported (as of may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family with 5 affected members has been reported (last curated september 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family with autosomal dominant inheritance had only progressive bone marrow failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one family with confirmed genetic basis has been reported (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one french family has been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one pakistani family has been reported (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient has been described (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been described (last curated january 2016) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient has been reported (as of july 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient has been reported (as of march 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient has been reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient was less severely affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient with a homozygous mutation has been reported (as of 14 june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one patient with normal psychomotor development has been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:one-third of cases are familial
n1=en:no consistent dysmorphic facial phenotype | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset 3rd to 4th decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset 6-13 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset 70-90 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset age 15-25 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset around adolescence in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset at age 3-5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset at age 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset before age 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset between 7 and 27 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset between 8 and 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset between 9 and 16 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset between the second and sixth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset beyond the second year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset birth to early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in adolescence or adulthood has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood (range 2 to 16 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood of blistering and pigmentary changes
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood or early adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood or youth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood, adolescence, and adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in childhood, but most noticeable in mid-teens and early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in first weeks to months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in fourth to sixth decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in infancy (first year of life)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in infancy after normal birth and neonatal period
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in infancy after weaning
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in infancy, but may not be diagnosed until later in mild cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in late childhood/adolescence (approximately 15 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in late twenties to thirties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in teenage or young adult years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in teens to late twenties (range 14 to 44 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset in the first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of diabetes in teenage years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of episodic liver failure in first 2 years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of episodic liver failure in first 2 years of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of febrile seizures typically between 6 months and 6 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of lymphedema before puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of major clinical features in young adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of muscle weakness in early childhood, usually before age 10 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of muscle weakness in fifth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of muscle weakness in late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of muscle weakness in late adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of scoliosis as early as 2 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of spasticity by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of spasticity in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms age 5-30
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms in adolescence or early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms in second to third decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in second to third decades of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms in the fourth to sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms in third to fourth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in third to fourth decade of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of symptoms usually in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of thrombosis by age 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of vision loss in young adulthood (<20 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of vision loss in young adulthood (<20 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of visual dysfunction in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset of visual loss in childhood (around age 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in childhood (range infancy to late childhood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in late infancy or childhood (1 to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset usually in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:onset within first 2 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:pain is noted to feel cold
n1=en:no consistent dysmorphic facial phenotype | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:painful cramping following ischemic exercise test
n1=en:no consistent dysmorphic facial phenotype | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:part of 'dent disease complex' (see 300009)
n1=en:no consistent dysmorphic facial phenotype | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients are born with normal head circumference
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients are often misdiagnosed with spherocytosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are often misdiagnosed with spherocytosis | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients are often of mediterranean origin
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients develop aortic dissection with little or no aortic enlargement
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients from 4 unrelated families have been reported (as of october 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients may become ventilator-dependent
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients may die in infancy or childhood due to respiratory failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients of brazilian origin have a pure cerebellar atrophy
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients often become wheelchair-bound 3 to 4 decades after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients often have a more severe and complicated phenotype in addition to peo
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients usually require total thyroidectomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:patients with homozygous mutations have a more severe disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2
n1=en:no consistent dysmorphic facial phenotype | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:peak age of onset in second decade (range childhood to 76 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:penetrance estimated to be 80%
n1=en:no consistent dysmorphic facial phenotype | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:percentages based on review of 51 published cases (pmid 24891339)
n1=en:no consistent dysmorphic facial phenotype | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:performing laboratory name:identifier:point in time:facility:nominal
n1=en:no consistent dysmorphic facial phenotype | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:perinatal death
n1=en:no consistent dysmorphic facial phenotype | n2=en:perinatal death | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:perinatal lethal
n1=en:no consistent dysmorphic facial phenotype | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:persistence of febrile seizures beyond age 6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
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:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:phenotype is worsened by cold temperature
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:phenotype may be exacerbated by maltreatment in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:phenotypic similarities to leigh syndrome (256000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
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:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns
n1=en:no consistent dysmorphic facial phenotype | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:plasma cholinesterase measurement
n1=en:no consistent dysmorphic facial phenotype | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:poor response to levodopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:precipitated by general anesthesia
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prelingual onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:prelingual onset | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prenatal onset or onset in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
n1=en:no consistent dysmorphic facial phenotype | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presents as early-onset strokes in 43% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
n1=en:no consistent dysmorphic facial phenotype | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:presumed autosomal dominant with incomplete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalence 1/10,000-1/15,000 female births
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalence in poland is 1 in 129,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalence much higher in whites than blacks
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalence of 1 in 200,000 to 1 in 800,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalence of 1 in 70,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalent among individuals of east asian descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalent in ashkenazi jews
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prevalent in bulgarian gypsies
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
n1=en:no consistent dysmorphic facial phenotype | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:progression to profound hearing loss affecting all frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:quinidine therapy may be effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:range of onset 11 to 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:rash, edema, and arthralgia may occur during crisis
n1=en:no consistent dysmorphic facial phenotype | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:reduced longevity
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced longevity | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:reduced penetrance (approximately 54%)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:reference lab test method:type:time reported elsewhere:reference lab test:narrative
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:regression in infancy (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:reported patients are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported patients are asymptomatic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:resource identifier:uri:pt:study:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:responsive to vitamin b12 therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:retinal arteriolar tortuosity develops in adolescence and is progressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:risk of sudden death in childhood due to cardiac arrest
n1=en:no consistent dysmorphic facial phenotype | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:secondary tumors develop within the skin lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:secretory diarrhea begins prenatally
n1=en:no consistent dysmorphic facial phenotype | n2=en:secretory diarrhea begins prenatally | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also distal hmn2a (158590)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also hmn2b (608634)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also peeling skin syndrome, acral type (609796)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also x-linked (310400) and autosomal dominant (160150) forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see also x-linked edmd (310300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:see ebn1 (121200) for an autosomal dominant form
n1=en:no consistent dysmorphic facial phenotype | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:seizure onset at a mean of 14 months (range 6 to 36 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:seizures are refractory to treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:seizures are usually refractory
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:seizures are usually refractory at first
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:sensorineural hearing loss may be presenting feature
n1=en:no consistent dysmorphic facial phenotype | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:severe clinical course
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe clinical course | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:severe epilepsy may lead to early death
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:severe infections in untreated patients with neutropenia
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe phenotype | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:severity of phenotype is not related to residual enzyme activity
n1=en:no consistent dysmorphic facial phenotype | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:six patients from 1 saudi arabian family have been reported (last curated december 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:slightly increased female:male ratio (1.4:1 to 2:1)
n1=en:no consistent dysmorphic facial phenotype | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some carrier females have episodes of significant hyperammonemia in infancy or childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some features may be variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:some features may be variable | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some heterozygous carriers exhibit accelerated age-related hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:some heterozygous carriers exhibit accelerated age-related hearing loss | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients are asymptomatic and detected only by newborn screening
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients become bedridden
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients become bedridden | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients become wheelchair-bound in second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients can hold menial jobs
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients experience respiratory infections in association with episodes of jaundice in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients have a crouzon-like appearance
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients have no neurologic abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have no neurologic abnormalities | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients may have residual muscle weakness
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients show delayed development from birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:some patients show infantile onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:spontaneous resorption (rare)
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:sporadic cases often single lesions versus multiple lesions in familial cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:stillborn or infantile death usual in prenatal form
n1=en:no consistent dysmorphic facial phenotype | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:subclavian artery supply disruption in embryogenesis has been suggested as etiology
n1=en:no consistent dysmorphic facial phenotype | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:sudden death within first days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:surviving infants develop severe nonbullous ichthyosiform erythroderma
n1=en:no consistent dysmorphic facial phenotype | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:susceptibility to infections start in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptomatic female carriers have been described in 1 japanese family
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptomatic female carriers have been described in 1 japanese family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms ameliorate with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms can be prevented by strict dietary restriction
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms noted at 2-3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms progress with worsening myopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms tend to improve with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms typically begin in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:symptoms usually appear in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)
n1=en:no consistent dysmorphic facial phenotype | n2=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three main clinical forms
n1=en:no consistent dysmorphic facial phenotype | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three main phenotypes
n1=en:no consistent dysmorphic facial phenotype | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three major clinical forms are apparent
n1=en:no consistent dysmorphic facial phenotype | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three males in 1 family have been reported (last curated august 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three patients have been reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
n1=en:no consistent dysmorphic facial phenotype | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three unrelated families have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three unrelated families have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three unrelated patients have been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three unrelated patients have been reported (last curated may 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:three unrelated probands have been reported (last curated january 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated probands have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
n1=en:no consistent dysmorphic facial phenotype | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:treatment with vitamin d and phosphate is effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:twelve or more lesions per eye in individuals over 60 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two autosomal dominant families have been reported (as of may 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two families have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two families of french-canadian origin have been reported (last curated december 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two fetuses have been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two japanese families have been reported (as of february 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two main phenotypes, severe and mild
n1=en:no consistent dysmorphic facial phenotype | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two main presentations
n1=en:no consistent dysmorphic facial phenotype | n2=en:two main presentations | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two patients have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two patients in one ashkenzai jewish family described (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two patients with a wws phenotype have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two peaks of onset, childhood and adult
n1=en:no consistent dysmorphic facial phenotype | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two sibs died before 2 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)
n1=en:no consistent dysmorphic facial phenotype | 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=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated july 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated july 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated june 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated families have been reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated japanese patients have been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated japanese patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated patients have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:two unrelated patients have been reported (last curated october 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:type i has most severe manifestations by age 4-5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:type i onset at 8 to 15 months of age after normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:type iiia has both liver and muscle involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:u-shaped pattern of temperature-dependent potassium flux (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:upper limb involvement in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:upper limb involvement may occur later
n1=en:no consistent dysmorphic facial phenotype | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
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:no consistent dysmorphic facial phenotype | 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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:usually fatal
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually fatal | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:usually fatal in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset (earliest reported 7 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset (range 10 to 50 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset (range 4 to 40 years, mostly in first or second decade)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset (range 9 to 78 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range 9 to 78 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset (range infancy to 30 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age at onset of arrhythmia (range 12 to 59 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset of arrhythmia (range 12 to 59 years) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age of onset, from early childhood to seventh decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable age of onset, ranging from 11 to 50 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable cardiac defects
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable expression of features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expression of features | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable expressivity within a family
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable manifestation of features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable neurologic phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable neuroradiologic findings
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable phenotype and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable phenotype, particularly with regard to cortical malformations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable phenotypic expression within same individual in each eye (in some patients)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotypic expression within same individual in each eye (in some patients) | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable response to acetazolamide and carbamazepine
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable severity of phenotype and other features may be present
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable severity, even within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:variable severity, ranging from 'typical' to 'severe' disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:very slow progression
n1=en:no consistent dysmorphic facial phenotype | n2=en:very slow progression | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:wheelchair use by 10-30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 27 / 0.628 ->
en:x-linked recessive cytochrome b-negative cgd
n1=en:no consistent dysmorphic facial phenotype | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=27
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:50% of cases represent new mutations associated with advanced paternal age
n1=en:no consistent dysmorphic facial phenotype | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:a severe infantile variant has been rarely reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about 20% of female mutation carriers may show mild muscle weakness
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about 5% of patients have a history of febrile seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about 50% of patients become wheelchair-bound at an average age of 37 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about 8% of female mutation carriers develop dilated cardiomyopathy
n1=en:no consistent dysmorphic facial phenotype | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about half of individuals are asymptomatic and identified by newborn screening programs
n1=en:no consistent dysmorphic facial phenotype | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:about half of patients report vestibular symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:absence of both inner and outer dynein arms of cilia
n1=en:no consistent dysmorphic facial phenotype | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:absence seizures show onset between 3.5 and 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:acanthosis nigricans fades during adolescence and reappears in pregnancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:accounts for 1-2% of lymphomas in adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:acetazolamide may benefit attacks of vertigo
n1=en:no consistent dysmorphic facial phenotype | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:acquired sporadic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:acute attacks rarely occur before puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:acute episodes decrease with age and disappear
n1=en:no consistent dysmorphic facial phenotype | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:adult onset (mean 30 years, range 10-65 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:adult onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:adult onset of neurologic symptoms (range 30 to 46 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult onset of neurologic symptoms (range 30 to 46 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:adult-onset in third to fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:affected individuals remain ambulatory in old age
n1=en:no consistent dysmorphic facial phenotype | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:affects 1 to 3% of the population
n1=en:no consistent dysmorphic facial phenotype | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:age of onset between 6 to 10 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset between 6 to 10 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:age of onset from 10 to 40 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset from 10 to 40 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:age of onset of upper limb involvement 10-43 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:age of onset varies (7 to 28 years of age)
n1=en:no consistent dysmorphic facial phenotype | n2=en:age of onset varies (7 to 28 years of age) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:age:time:pt:^egg donor:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:all cases occur in a jewish religious isolate originally from cochin, india
n1=en:no consistent dysmorphic facial phenotype | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:all reported patients are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic disorder to primary erythermalgia (133020)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to cowden disease (158350), which has a later age at onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to hand osteoarthritis (607850)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to pendred syndrome, deafness with goiter (274600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:allelic with retinitis pigmentosa 35 (610282)
n1=en:no consistent dysmorphic facial phenotype | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:almost all patients require total parenteral nutrition
n1=en:no consistent dysmorphic facial phenotype | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:alpha-l-iduronidase activity is <1% for all forms of mps1
n1=en:no consistent dysmorphic facial phenotype | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:anemia may show onset in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:apparent in newborn at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:association of cardiac events with exercise
n1=en:no consistent dysmorphic facial phenotype | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:ataxia becomes evident at the end of the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:attacks rarely occur before puberty (hcp)
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:autonomic dysfunction usually precedes obvious neurologic deterioration
n1=en:no consistent dysmorphic facial phenotype | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:autonomic symptoms occur with headaches
n1=en:no consistent dysmorphic facial phenotype | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:autosomal dominant inheritance has been reported in a single family
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:autosomal dominant with complete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:average age at onset 18 years (range 15 to 25 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:average age at onset 38 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on 1 reported family (last curated december 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on a report of 2 monozygotic twin girls (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on one 4-generation italian family (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one 4-generation italian family (last curated august 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on one sib pair each in their seventies
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on report of 2 affected sisters (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 affected sisters (last curated march 2016) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on report of 2 sibs in 2008
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on report of 2 sisters (last curated october 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on report of 2 unrelated japanese girls (last curated october 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of 2 unrelated japanese girls (last curated october 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:based on report of one consanguineous kuwaiti family (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:begins as focal dystonia, later becomes segmental or generalized
n1=en:no consistent dysmorphic facial phenotype | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:blood glucose monitor with integrated voice synthesizer
n1=en:no consistent dysmorphic facial phenotype | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:body habitus becomes apparent in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:both homozygous and heterozygous edn3 mutations have been found
n1=en:no consistent dysmorphic facial phenotype | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:brain mri abnormalities show improvement with time
n1=en:no consistent dysmorphic facial phenotype | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:carcinomas tend to develop in mid or late adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:carcinomas tend to develop in mid or late adulthood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:cardiac involvement occurs between 5 and 12 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:cataracts may be subclinical in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:caused by heterozygous germline mutation and second-hit somatic mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:caused by inborn error in bile acid synthesis
n1=en:no consistent dysmorphic facial phenotype | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:cheerful disposition
n1=en:no consistent dysmorphic facial phenotype | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:childhood onset (average 4 to 6 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:children rarely develop the disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
n1=en:no consistent dysmorphic facial phenotype | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)
n1=en:no consistent dysmorphic facial phenotype | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:clubfoot is bilateral in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:colchicine treatment is not effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:colorectal cancer develops by fourth decade in untreated patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:common in japan and other asian populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:common in south african whites
n1=en:no consistent dysmorphic facial phenotype | n2=en:common in south african whites | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:complementation group b (represented by single atypical patient)
n1=en:no consistent dysmorphic facial phenotype | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
n1=en:no consistent dysmorphic facial phenotype | n2=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:considered to be a variant of gaucher disease type iii (231000)
n1=en:no consistent dysmorphic facial phenotype | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:contiguous gene deletion syndrome
n1=en:no consistent dysmorphic facial phenotype | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:contractures most severe by midadolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death can occur in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death frequent in severe infantile form
n1=en:no consistent dysmorphic facial phenotype | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death in first months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in first months of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death in infancy secondary to kernicterus
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death in infancy, usually from sepsis, dehydration, or acidosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death in the first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death in utero or in early infancy is common
n1=en:no consistent dysmorphic facial phenotype | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death may occur in early infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death often in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:death often in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death secondary to renal failure, cardiac or cerebrovascular disease
n1=en:no consistent dysmorphic facial phenotype | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death usually occurs in the first weeks to months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:death usually within first weeks of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:decrease in seizure frequency in middle age
n1=en:no consistent dysmorphic facial phenotype | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:decreased fertility
n1=en:no consistent dysmorphic facial phenotype | n2=en:decreased fertility | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:decreased penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:delta-f508 present in 70% of alleles
n1=en:no consistent dysmorphic facial phenotype | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:dermatitis resolves in offspring after zinc supplementation and/or weaning
n1=en:no consistent dysmorphic facial phenotype | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes
n1=en:no consistent dysmorphic facial phenotype | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:disease exacerbation during summer due to heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)
n1=en:no consistent dysmorphic facial phenotype | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:distinct disorder from autosomal dominant hyper ige syndrome (147060)
n1=en:no consistent dysmorphic facial phenotype | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:diurnal fluctuation of neurologic symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:dramatic improvement with proper treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:earlier onset may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:early death (mean age 13 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:early death may occur from cardiogenic shock preceded by arrhythmia
n1=en:no consistent dysmorphic facial phenotype | n2=en:early death may occur from cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:early onset has rarely been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:end-stage renal failure in first or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:enterocolitis tends to remit with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:episode, syncopal
n1=en:no consistent dysmorphic facial phenotype | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:episodes are triggered by fatigue, illness, or strenuous exercise
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:episodes last 2 days to 1 week
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:episodic metabolic decompensation usually associated with illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia
n1=en:no consistent dysmorphic facial phenotype | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:extracutaneous manifestations are variable
n1=en:no consistent dysmorphic facial phenotype | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:familial cases are rare and show incomplete penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:favorable response to anticonvulsants
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:favorable response to lenalidomide treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to lenalidomide treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:favorable response to oral bile acid therapy
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:favorable response to oral creatine treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:febrile attacks disappear in adulthood in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:febrile seizures show onset between 6 months and 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:female carriers may be less severely affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:female carriers may be mildly affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
n1=en:no consistent dysmorphic facial phenotype | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:females have milder manifestations than males
n1=en:no consistent dysmorphic facial phenotype | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:fifty percent of cases are sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:flares triggered by viral infection, overexertion, stress
n1=en:no consistent dysmorphic facial phenotype | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:fluoxetine therapy may be effective
n1=en:no consistent dysmorphic facial phenotype | n2=en:fluoxetine therapy may be effective | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:for similar autosomal recessive form, see cln4 (204300)
n1=en:no consistent dysmorphic facial phenotype | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:four patients from 3 families have been reported (last curated march 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:four unrelated boys have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated boys have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:four unrelated families have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:fracture frequency decreased post puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:fracture frequency increases after menopause and in men ages 60-80
n1=en:no consistent dysmorphic facial phenotype | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:frequency of attack, monthly - bimonthly
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1
n1=en:no consistent dysmorphic facial phenotype | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:gait abnormality
n1=en:no consistent dysmorphic facial phenotype | n2=en:gait abnormality | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:generalized fatigue
n1=en:no consistent dysmorphic facial phenotype | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:generally benign disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see 125800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see etl2, 608096)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see hhf1 256450)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see lqt1 192500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see mcc1 deficiency 210200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see npc1, 257220)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see pfm1, 168500)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)
n1=en:no consistent dysmorphic facial phenotype | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:good response to gaba-enhancing medications
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:good response to l-dopa initially
n1=en:no consistent dysmorphic facial phenotype | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:gradual progression of hearing loss
n1=en:no consistent dysmorphic facial phenotype | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:gradual spontaneous improvement in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:greater expression in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:greater expression in females | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:group a patients die in the first years of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hair regrowth may occur later in life
n1=en:no consistent dysmorphic facial phenotype | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hairy elbows become apparent in infancy and regress during adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hand involvement improves with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hands clenched at birth but loosen in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:haploinsufficiency of rps14 (130620)
n1=en:no consistent dysmorphic facial phenotype | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hepatomegaly improves with age and disappears around puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:heterozygotes exhibit blue sclerae and soft velvety skin
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:heterozygous females may exhibit variable degrees of enzyme deficiency
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)
n1=en:no consistent dysmorphic facial phenotype | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:high frequency hearing loss progresses to include all frequencies
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:high frequency of de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:high incidence in iraqis and sephardic jewish individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:high prevalence among individuals of portuguese descent
n1=en:no consistent dysmorphic facial phenotype | n2=en:high prevalence among individuals of portuguese descent | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:highly variable age at onset (range childhood to late adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:highly variable clinical and immunologic phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:highly variable dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'
n1=en:no consistent dysmorphic facial phenotype | n2=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:hyponatremia usually associated with gastroenteritis
n1=en:no consistent dysmorphic facial phenotype | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:impaired healing
n1=en:no consistent dysmorphic facial phenotype | n2=en:impaired healing | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence 7-15% in pacific island populations
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence of 1 in 10,000 to 1 in 20,000
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence of 1 in 40,000 infants worldwide
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence of 1 in 480 among old order amish
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incidence of 12.2 per 100,000 in finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:incomplete, but high, penetrance
n1=en:no consistent dysmorphic facial phenotype | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased frequency in eastern pennsylvania amish
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased frequency in the faroe islands (carrier 1 in 25)
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased morbidity/mortality in affected males
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased prevalence among women
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased prevalence among women | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased recurrence risk with parental translocation
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased sensitivity to valproic acid toxicity
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:increased susceptibility to malignant hyperthermia
n1=en:no consistent dysmorphic facial phenotype | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:infantile form accounts for 90% of cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:interfamilial and intrafamilial variability in severity of symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:interfamilial and intrafamilial variability in severity of symptoms | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:intermediate expression in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
n1=en:no consistent dysmorphic facial phenotype | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:intracellular accumulation of material may not always be apparent
n1=en:no consistent dysmorphic facial phenotype | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:juvenile myoclonic epilepsy (jme, 606904)
n1=en:no consistent dysmorphic facial phenotype | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:late adult onset (after age 55 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:later onset in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:later onset in females | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:length of attack, 3 to 7 days
n1=en:no consistent dysmorphic facial phenotype | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:length of time post dose:time:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:less severe phenotype in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:lethal in utero or perinatal lethal
n1=en:no consistent dysmorphic facial phenotype | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:lifetime risk of breast cancer in mutation carriers is 80 to 90%
n1=en:no consistent dysmorphic facial phenotype | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:linked to 10q24 trisomy
n1=en:no consistent dysmorphic facial phenotype | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:lipodystrophic appearance may be mild or not present
n1=en:no consistent dysmorphic facial phenotype | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:liver failure episodes cease in later childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:liver failure episodes cease in later childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:low physical performance
n1=en:no consistent dysmorphic facial phenotype | n2=en:low physical performance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:majority of cases are due to de novo mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:majority of cases in the afrikaner population of south africa
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:majority of cases sporadic
n1=en:no consistent dysmorphic facial phenotype | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:male-to-female ratio, 1.8 to 1
n1=en:no consistent dysmorphic facial phenotype | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:males are more severely affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:marked clinical variability within families
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:marked variability in severity of the skin lesions
n1=en:no consistent dysmorphic facial phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:maternal uniparental disomy (upd)7 reported in some cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:may be present in asymptomatic adults
n1=en:no consistent dysmorphic facial phenotype | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:may have less severe phenotype than rsts patients with crebbp mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:may or may not be responsive to pyridoxine (vitamin b6) treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:may respond to cholinesterase inhibitors of amifampridine
n1=en:no consistent dysmorphic facial phenotype | n2=en:may respond to cholinesterase inhibitors of amifampridine | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age at onset 10.6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of diagnosis of uterine leiomyomas is 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of onset 16 to 19 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of onset 18 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of onset 20.6 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of onset 56 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mild cases show clinical, biochemical, and mri improvement after the second year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mild phenotype onset - 11-18 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
n1=en:no consistent dysmorphic facial phenotype | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:more frequent in males
n1=en:no consistent dysmorphic facial phenotype | n2=en:more frequent in males | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most (80 to 90%) of cases result from deletions of the sts gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most cases are caused by mutation in the phox2b gene
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most cases are isolated
n1=en:no consistent dysmorphic facial phenotype | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most common inherited bleeding disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients appear unaffected in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients are asymptomatic and are detected by newborn screening
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients are female
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are female | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients are from finland
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients have de novo mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients have no bleeding abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients retain ambulation with aids
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:most patients show early childhood onset after a period of normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:motor symptoms show mild clinical improvement with levodopa treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mutation carriers may show toxicity to 5-fluorouracil (5fu)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mutation found in 1 puerto rican family (last curated august 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mutation in the hcrt gene has been identified in 1 patient
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:mutations result in inactivation of nkx3-2 (602183)
n1=en:no consistent dysmorphic facial phenotype | n2=en:mutations result in inactivation of nkx3-2 (602183) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)
n1=en:no consistent dysmorphic facial phenotype | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:neonatal or infant death
n1=en:no consistent dysmorphic facial phenotype | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:new skin lesions stop appearing before adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:no abdominal symptoms or neurologic symptoms in harderoporphyria
n1=en:no consistent dysmorphic facial phenotype | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:no dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:no neurologic sequelae
n1=en:no consistent dysmorphic facial phenotype | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:no skeletal abnormalities in odontohypophosphatasia
n1=en:no consistent dysmorphic facial phenotype | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:nonprogressive
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonprogressive | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:nonsyndromic
n1=en:no consistent dysmorphic facial phenotype | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:normal ability to tolerate heat
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:normal alleles contain up to 30 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:normal alleles contain up to 44 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:not all nails are affected in some patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:not all patients have all features
n1=en:no consistent dysmorphic facial phenotype | n2=en:not all patients have all features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:noted in early childhood in most patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:noted in early childhood in most patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative
n1=en:no consistent dysmorphic facial phenotype | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:nystagmus is often the presenting sign
n1=en:no consistent dysmorphic facial phenotype | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:observed in individuals of bulgarian roma bowlmaker ethnic group
n1=en:no consistent dysmorphic facial phenotype | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:occurs in 2-5 per 10,000 individuals
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:occurs in about 1 in 10,000 births
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:often lethal in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one 4-generation chinese family has been reported (as of 04/2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one canadian mennonite family has been reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one chinese family with 14 affected individuals has been described (last curated february 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous family has been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous pakistani family has been reported (last curated june 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous pakistani reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous saudi family has been reported (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one consanguineous turkish family has been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family and 1 unrelated patient have been reported (last curated july 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family had normal cognitive and neurologic development
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family has been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family has been reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family has been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family has been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family has been reported with limited clinical information (last curated october 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family of french-canadian origin has been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family of french-canadian origin has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family reported (last curated july 2008)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one family with 2 sisters have been reported (as of march 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one large family has been reported (as of 2008)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one large italian kindred has been reported (last curated november 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one large italian kindred has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one pakistani reported (last curated november 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient had onset at age 4 months after normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient had onset at birth and a more severe disorder resulting in death at a young age
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient has been reported (as of curation date may, 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient has been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient has been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one patient with severe congenital onset has been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one report of mother and son (last curated august 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:one third of patients represent new mutations
n1=en:no consistent dysmorphic facial phenotype | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:only some patients showed neurologic involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 0-12 hours after birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 10-20 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 2-4 years of age in iia
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 3 months of age up to 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 5 to 10 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset 6 to 30 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset after third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset after third decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset at 2 to 4 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset at 4 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset at 5-24 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset at birth or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset between 1-3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset between 3 and 11 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset between 5 to 28 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset between age 4 to 7 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset between ages 2 and 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset between ages 2 and 5 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in childhood or adolescence (range 6 to 15 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in childhood or second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in childhood with exacerbation during puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in childhood with exacerbation during puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in early childhood (infancy to 5 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in infancy after weaning from being breast-fed
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in infancy or childhood (range 1 to 13 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in second to fourth decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in the first hours or days of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in the first or second decades of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset in the second or third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset may be prelingual or in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset may occur in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of acanthosis nigricans in childhood or by puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of acanthosis nigricans in childhood or by puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of choroideremia in second to third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of encephalopathy between ages 2 and 3 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of end-stage renal disease 15 to 20 years after onset
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of essential tremor between 16 and 44 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of hearing loss in first decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hearing loss in first decade of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of macrocephaly in the first year of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of neurologic disease in early adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of parkinsonism in early twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of parkinsonism in first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of seizures between 2 and 5 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures between 2 and 5 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of seizures in first months of life (usually 4 to 7 months)
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of sleep terrors between age 4 and 12 years old
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of symptoms after age 5
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of symptoms in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of symptoms in second or third decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of symptoms usually between 12-15 years
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset of visual loss in the first decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset often in late adolescence
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset precipitated by fasting or illness
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset usually at 2 to 6 months of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset usually in infancy or early childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset usually in third decade of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:onset within first 6 months of life
n1=en:no consistent dysmorphic facial phenotype | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:partial laminin alpha-2 deficiency results in milder phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patient satisfaction with healthcare delivery:score:pt:^patient:qn
n1=en:no consistent dysmorphic facial phenotype | n2=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients die in infancy due to infectious complications
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients die in infancy due to infectious complications | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients exhibit no signs of ocular or cutaneous albinism
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients may become totally dependent for all activities of daily living
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients may show normal development
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients often nonambulatory by the mid-twenties
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients present with groin pain
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients present with groin pain | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients with contiguous gene deletion of 8q24 have more severe features
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients with later onset do not have dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:patients with meb have less severe features and longer survival
n1=en:no consistent dysmorphic facial phenotype | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:performing laboratory medical director:id:pt:facility:nom
n1=en:no consistent dysmorphic facial phenotype | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotypic similarities to angelman syndrome (105830)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotypic variability within families and among patients carrying the same mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:phenotypic variation (may affect language expression, reception, and/or articulation)
n1=en:no consistent dysmorphic facial phenotype | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:positive response to treatment with growth hormone
n1=en:no consistent dysmorphic facial phenotype | n2=en:positive response to treatment with growth hormone | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:precipitated by fatigue or alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:precipitating factors - ingestion of wheat gluten, rye, and/or barley
n1=en:no consistent dysmorphic facial phenotype | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:prenatal onset or onset at birth
n1=en:no consistent dysmorphic facial phenotype | n2=en:prenatal onset or onset at birth | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:prevalence of 1 in 1,500
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:prevalent in quebec
n1=en:no consistent dysmorphic facial phenotype | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:progresses to involve upper limbs
n1=en:no consistent dysmorphic facial phenotype | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:protein s deficiency is found in 2-3% of patients with thromboembolism
n1=en:no consistent dysmorphic facial phenotype | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:rapidly progressive disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:rapidly progressive to persistent vegetative state or death
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)
n1=en:no consistent dysmorphic facial phenotype | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:rare survival to teens
n1=en:no consistent dysmorphic facial phenotype | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:rarely produces clinical jaundice
n1=en:no consistent dysmorphic facial phenotype | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:recurrent bacterial infections beginning in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:reduced fetal movement
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:reduced penetrance in females
n1=en:no consistent dysmorphic facial phenotype | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal
n1=en:no consistent dysmorphic facial phenotype | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:reported in 2 sibs (february 1991)
n1=en:no consistent dysmorphic facial phenotype | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:respiratory distress may be precipitated by viral respiratory infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities
n1=en:no consistent dysmorphic facial phenotype | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see (277600) for a phenotypically similar autosomal recessive form
n1=en:no consistent dysmorphic facial phenotype | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also autosomal recessive form (255700), which is more common and more severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also benign neonatal epilepsy (ebn1, 121200)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also cmtx1 (302800) and cmt3x (302802)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also cmtx1 (302800) and cmtx2 (302801)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also familial developmental dysphasia (600117)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also febrile seizures (feb1, 121210)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also gaucher disease type iii (231000), which is much less severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also lethal neonatal (608836) and adult forms (255110)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also perinatal lethal variant (608013), which is more severe
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also severe, early-onset form (300717)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see also the non-herlitz type of jeb (226650), a less severe disorder
n1=en:no consistent dysmorphic facial phenotype | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders
n1=en:no consistent dysmorphic facial phenotype | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:seizure onset after 3 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:seizures last about 30 seconds to 3 minutes
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:seizures recur in 33% of patients
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:seizures tend to become more focal with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:severe heat intolerance
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe heat intolerance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:severe infantile cases usually die by 6 months
n1=en:no consistent dysmorphic facial phenotype | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:severity of clinical phenotype varies both within and between kindreds
n1=en:no consistent dysmorphic facial phenotype | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sexual infantilism
n1=en:no consistent dysmorphic facial phenotype | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:short stepped shuffling gait
n1=en:no consistent dysmorphic facial phenotype | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:similar to infantile neuroaxonal dystrophy (inad, 256600)
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae
n1=en:no consistent dysmorphic facial phenotype | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:skin blistering and photosensitivity improve in adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:skin changes are progressive in childhood
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:skin lesions are fully penetrant by second decade
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:skin peeling exacerbated by heat, friction, and humidity
n1=en:no consistent dysmorphic facial phenotype | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:slc25a4 mutations account for approximately 4% of all peo cases
n1=en:no consistent dysmorphic facial phenotype | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:slight increased risk for malignancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:slight male predominance (3:2)
n1=en:no consistent dysmorphic facial phenotype | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some families have axonal cmt (cmt2m)
n1=en:no consistent dysmorphic facial phenotype | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some female carriers are more mildly affected
n1=en:no consistent dysmorphic facial phenotype | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some more severely affected patients may die in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients become wheelchair-bound
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients do not reach end-stage renal failure
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients have lethal fetal akinesia with death in utero
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have lethal fetal akinesia with death in utero | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients have only plantar surface involvement
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients may not achieve walking
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some patients may not present until adulthood
n1=en:no consistent dysmorphic facial phenotype | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some pedigrees are consistent with autosomal dominant inheritance
n1=en:no consistent dysmorphic facial phenotype | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:some people with a cnnm2 mutation are asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:some people with a cnnm2 mutation are asymptomatic | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:spinal tumors are necessary for diagnosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:spontaneous bleeding is rare
n1=en:no consistent dysmorphic facial phenotype | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:stillborn or death in infancy
n1=en:no consistent dysmorphic facial phenotype | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:subtle facial phenotype compared to other types of hpe
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:subtype 3c (231005) comprises cardiovascular calcifications
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:subtype of migraine with aura
n1=en:no consistent dysmorphic facial phenotype | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sudden cardiac death frequent in affected families
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sudden death in affected males occurs in teens
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sudden death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden death may occur | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:sudden infant death may occur
n1=en:no consistent dysmorphic facial phenotype | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:survival to 20 years in severe form
n1=en:no consistent dysmorphic facial phenotype | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:swelling starts to fade by age 30 years and gradually becomes unremarkable
n1=en:no consistent dysmorphic facial phenotype | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptomatic if > 200 repeats
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms are often responsive to alcohol
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms often decrease or remit with age
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms resolve over weeks to months with usually no residual symptoms between attacks
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms usually induced only by strenuous exercise
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms vary according to location of tumor
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:symptoms worsen with fatigue and exercise
n1=en:no consistent dysmorphic facial phenotype | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea
n1=en:no consistent dysmorphic facial phenotype | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features
n1=en:no consistent dysmorphic facial phenotype | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three families have been reported (as of 28 june 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three families have been reported (last curated august 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three families have been reported (last curated november 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three patients (2 related) reported (last curated march 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three patients have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three patients have been reported (as of august 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three patients have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three unrelated families have been reported (last curated november 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:three unrelated patients have been reported (last curated december 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:trauma may accelerate symptoms
n1=en:no consistent dysmorphic facial phenotype | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:treatment with folinic acid offers some benefit for anemia and seizure control
n1=en:no consistent dysmorphic facial phenotype | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:tremors develop after seizures
n1=en:no consistent dysmorphic facial phenotype | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
n1=en:no consistent dysmorphic facial phenotype | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:tumors usually develop between 40 and 60 years of age
n1=en:no consistent dysmorphic facial phenotype | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two consanguineous families with 2 patients each have been reported (last curated august 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two consanguineous lebanese families have been reported (last curated march 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two consanguineous lebanese families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two families have been reported (last curated april 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two families of canadian origin have been reported (last curated may 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two families reported (last curated february 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two mother and child pairs have been reported (last curated july 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two mother and child pairs have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two patients from spain have been reported (as of january 2012)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two patients reported (last curated may 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)
n1=en:no consistent dysmorphic facial phenotype | 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=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two patients without cardiomyopathy or cataracts have been reported
n1=en:no consistent dysmorphic facial phenotype | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated chinese families have been reported (last curated november 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated families have been reported (as of october 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated families have been reported (last curated september 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated patients have been reported (as of may 2011)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated patients have been reported (last curated december 2010)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated patients have been reported (last curated february 2015)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated patients have been reported (last curated june 2013)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)
n1=en:no consistent dysmorphic facial phenotype | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia
n1=en:no consistent dysmorphic facial phenotype | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:usual age of onset in the 20s and 30s
n1=en:no consistent dysmorphic facial phenotype | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:usually asymptomatic
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:usually fatal in first 2 decades
n1=en:no consistent dysmorphic facial phenotype | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
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
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age at diagnosis
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age at onset (range birth to teenage years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range birth to teenage years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age at onset (range childhood to late adult)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age of onset (childhood to adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age of onset (childhood to young adulthood)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age of onset (range 4 months to 45 years)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable age of onset of renal manifestations
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable clinical phenotype
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable clinical presentation
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable expression
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable expression | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable features present
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable features present | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable frequency (2 per day up to 1 per month)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable frequency (weekly to yearly)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable frequency and duration of episodes
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable ictal semiology
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable phenotype (myotonia may or may not be present)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable phenotype (range from completely female to males with mild undermasculinization)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable presentation of clinical features
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable presentation of clinical features | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable response to steroid treatment
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable severity (mild symptoms to severe handicap)
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation
n1=en:no consistent dysmorphic facial phenotype | n2=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:vhl type 1 - renal carcinoma and hemangioblastoma
n1=en:no consistent dysmorphic facial phenotype | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:visual acuity varies from 20/20 to no light perception
n1=en:no consistent dysmorphic facial phenotype | n2=en:visual acuity varies from 20/20 to no light perception | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 26 / 0.605 ->
en:wide phenotypic variability and severity
n1=en:no consistent dysmorphic facial phenotype | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=26
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 25 / 0.581 ->
en:no
n1=en:no consistent dysmorphic facial phenotype | n2=en:no | rel=r_associated | relid=0 | w=25
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
n1=en:no consistent dysmorphic facial phenotype | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
en:osteoglophonic, derived from greek meaning hollowed out
n1=en:no consistent dysmorphic facial phenotype | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
en:retinitis pigmentosa
n1=en:no consistent dysmorphic facial phenotype | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
létal
n1=en:no consistent dysmorphic facial phenotype | n2=létal | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
létale
n1=en:no consistent dysmorphic facial phenotype | n2=létale | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
rétinite pigmentaire d'apparition tardive
n1=en:no consistent dysmorphic facial phenotype | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
rétinite pigmentaire liée au sexe récessive 3
n1=en:no consistent dysmorphic facial phenotype | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
rétinite pigmentaire sénile
n1=en:no consistent dysmorphic facial phenotype | n2=rétinite pigmentaire sénile | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
rétinite pigmentaire, surdité, retard mental, et hypogonadisme
n1=en:no consistent dysmorphic facial phenotype | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 20 / 0.465 ->
rétinopathie pigmentaire
n1=en:no consistent dysmorphic facial phenotype | n2=rétinopathie pigmentaire | rel=r_associated | relid=0 | w=20
- en:no consistent dysmorphic facial phenotype --
r_associated #0: 1 / 0.023 ->
en:finding
n1=en:no consistent dysmorphic facial phenotype | n2=en:finding | rel=r_associated | relid=0 | w=1
| ≈ 6120 relations entrantes
- en:discordant phenotype among monozygotic twins has been reported ---
r_associated #0: 43 -->
en:no consistent dysmorphic facial phenotype
n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=43
- en:estimated incidence of 1-2 in 10,000 ---
r_associated #0: 43 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated incidence of 1-2 in 10,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=43
- en:favorable response to ephedrine treatment ---
r_associated #0: 43 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to ephedrine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=43
- en:late-adult onset has been reported ---
r_associated #0: 43 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=43
- en:age of onset varies ranging from 3 weeks to 22 years ---
r_associated #0: 42 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=42
- en:approximately 50% of patients have situs inversus ---
r_associated #0: 42 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 50% of patients have situs inversus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=42
- en:associated with advanced paternal age ---
r_associated #0: 42 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with advanced paternal age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=42
- en:can also be caused by contiguous gene deletion on chromosome 22q11.2 ---
r_associated #0: 42 -->
en:no consistent dysmorphic facial phenotype
n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=42
- en:death in third or fourth decades, usually due to respiratory infection ---
r_associated #0: 42 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=42
- en:early death (usually by 3 years of age) ---
r_associated #0: 41 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death (usually by 3 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=41
- en:episode frequency is monthly to yearly, and decreases with age ---
r_associated #0: 41 -->
en:no consistent dysmorphic facial phenotype
n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=41
- en:fractures and dental caries and premature secondary tooth loss occur in adulthood ---
r_associated #0: 41 -->
en:no consistent dysmorphic facial phenotype
n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=41
- en:onset of symptoms in early childhood in most patients ---
r_associated #0: 41 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in early childhood in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=41
- en:treatment with sulfonylurea can be effective ---
r_associated #0: 41 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with sulfonylurea can be effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=41
- en:50% of cases represent new mutations associated with advanced paternal age ---
r_associated #0: 40 -->
en:no consistent dysmorphic facial phenotype
n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=40
- en:highly penetrant, but low morbidity ---
r_associated #0: 40 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly penetrant, but low morbidity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=40
- en:hip joint replacement often necessary ---
r_associated #0: 40 -->
en:no consistent dysmorphic facial phenotype
n1=en:hip joint replacement often necessary | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=40
- létal ---
r_associated #0: 40 -->
en:no consistent dysmorphic facial phenotype
n1=létal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=40
- en:majority of cases are sporadic, often in tall, thin men ---
r_associated #0: 39 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=39
- en:incomplete penetrance ---
r_associated #0: 38 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=38
- en:inflammatory bowel disease may develop in childhood or adolescence ---
r_associated #0: 38 -->
en:no consistent dysmorphic facial phenotype
n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=38
- en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years ---
r_associated #0: 38 -->
en:no consistent dysmorphic facial phenotype
n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=38
- en:lethal ---
r_associated #0: 38 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=38
- en:clinical presentation varies from asymptomatic to fulminant course ---
r_associated #0: 37 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=37
- en:incidence 1 in 15,000-28,000 births ---
r_associated #0: 37 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 15,000-28,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=37
- en:lethal in males ---
r_associated #0: 37 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=37
- en:loss of tumor suppressor gene ---
r_associated #0: 37 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of tumor suppressor gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=37
- en:male to female ratio 4:1 ---
r_associated #0: 37 -->
en:no consistent dysmorphic facial phenotype
n1=en:male to female ratio 4:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=37
- en:four unrelated families have been reported (last curated august 2015) ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:in general, men have more severe disease than women ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:in general, men have more severe disease than women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:incidence of 1 in 39,000 ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 39,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:majority of patients are ambulatory ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients are ambulatory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:males more affected than females (2 to 2.5:1) ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:males more affected than females (2 to 2.5:1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) ---
r_associated #0: 36 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=36
- en:abnormal sensitivity to therapeutic radiation ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:abnormal sensitivity to therapeutic radiation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:adult onset ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:age of onset usually 1 week to 2 years ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset usually 1 week to 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:all cases sporadic (18 males, 7 females) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases sporadic (18 males, 7 females) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:anemia is responsive to corticosteroid treatment ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia is responsive to corticosteroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:associated with increased frequency of autoimmune diseases ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with increased frequency of autoimmune diseases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:associated with smoking ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with smoking | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:based on report of 2 sibs in 2008 ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 sibs in 2008 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:bleeding is usually delayed-onset after challenge ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:bleeding is usually delayed-onset after challenge | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:cardiomyopathy is not a feature ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiomyopathy is not a feature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:carrier females may have mild intellectual disability ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may have mild intellectual disability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:death in fourth to fifth decade ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in fourth to fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:death in perinatal period ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in perinatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:diarrhea worsens in parallel with increases in severity of skin disease ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:diurnal fluctuation ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:diurnal fluctuation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:early death due to sepsis ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death due to sepsis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:end-stage renal failure may occur ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:end-stage renal failure may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:female carriers may be affected ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may be affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:foot deformities are present in infancy or childhood ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:foot deformities are present in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- 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:no consistent dysmorphic facial phenotype
n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:four unrelated families have been reported (last curated september 2015) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:fractures decrease after puberty but increase after menopause ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:fractures decrease after puberty but increase after menopause | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:frequency of infections decreases after 3 years of age ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency of infections decreases after 3 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:genetic heterogeneity (see 116800 for summary) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:high frequency hearing loss progresses to include all frequencies ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:highly variable clinical phenotype ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable clinical phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:highly variable expression ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable expression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:highly variable organ involvement and severity ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable organ involvement and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:hypersensitivity to ionizing radiation ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypersensitivity to ionizing radiation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:immunologic defects are variable ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:immunologic defects are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:incidence - 1/16,000 live births ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence - 1/16,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:increased male to female ratio (7.5:1) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased male to female ratio (7.5:1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:increased risk of myeloproliferative disorders in those with somatic mutations ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:infantile, late-infantile, juvenile, and adult onset have been reported ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- 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: 35 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:juvenile rigid early-onset form more often paternally inherited ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:lack of treatment results in early death ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:lack of treatment results in early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:late-adult onset (fifth to sixth decade) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset (fifth to sixth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:length of attack, 3 to 7 days ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:length of attack, 3 to 7 days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:lesions continue to grow until epiphyseal plate closure ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:long headache duration (greater than 12 hours) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:long headache duration (greater than 12 hours) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:lower limb involvement occurs before upper limb involvement ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:lower limb involvement occurs before upper limb involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:majority of cases (95%) are sporadic ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases (95%) are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:male predominance of 3:1 to 5:1 ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:male predominance of 3:1 to 5:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:males are most severely affected, but females can also be affected ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:males are most severely affected, but females can also be affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:many patients lose independent mobility after 25 years ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients lose independent mobility after 25 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:may be due to imprinting defect ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be due to imprinting defect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:may be progressive ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:may fade with age ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:may fade with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:mean age at onset of cerebellar ataxia is 52.8 years ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:metabolic encephalomyopathic crises often triggered by infection ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:one lebanese family has been reported ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:one lebanese family has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:quinidine therapy may be effective ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:quinidine therapy may be effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:two unrelated families have been reported (last curated june 2015) ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:variable severity of clinical and radiologic manifestations ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity of clinical and radiologic manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- rétinite pigmentaire d'apparition tardive ---
r_associated #0: 35 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire d'apparition tardive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35
- en:(3) adult nonnephropathic (219750) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:(3) adult nonnephropathic (219750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:age at diagnosis 24 +/- 18 years for dominant disease ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:age of onset/diagnosis 12-35 years ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset/diagnosis 12-35 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:carrier females show no phenotypic abnormalities, but may have learning difficulties ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:clinical and biochemical abnormalities disappear with age ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical and biochemical abnormalities disappear with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:color vision defects may not be part of the phenotype ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:color vision defects may not be part of the phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:cutaneous symptoms induced by cold exposure or cooling ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:death secondary to renal failure, cardiac or cerebrovascular disease ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:death usually in newborn period or infancy ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in newborn period or infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:deposits may recur in graft after corneal transplantation ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:deposits may recur in graft after corneal transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:episodes occur 30 minutes to 3 hours after exposure to cold ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:excessive skin picking of sores ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:excessive skin picking of sores | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:few familial (parent offspring) cases reported ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:few familial (parent offspring) cases reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:genetic heterogeneity (see 609192) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 609192) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:good response to steroid treatment ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to steroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:hearing loss occurs in late childhood ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss occurs in late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:highly variable phenotype, ranging from asymptomatic to severe ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:incidence 1 in 30,000 male births ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 30,000 male births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:incidence 8/1,000 newborns ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 8/1,000 newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:incomplete penetrance in carrier females ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance in carrier females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:incomplete penetrance in some families ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance in some families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:infants are stillborn or die shortly after birth ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants are stillborn or die shortly after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:inflammatory arthritis may develop in 30% of patients ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:initial development may appear normal ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:initial development may appear normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:initial hearing loss is mild progressing to severe or profound by the seventh decade ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:internal organ rupture may occur ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:internal organ rupture may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:intrafamilial phenotypic variation may occur ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial phenotypic variation may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:joint symptoms begin in third or fourth decade ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:joint symptoms begin in third or fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:later onset (late childhood to young adult) has been reported ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset (late childhood to young adult) has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:lifetime risk of breast cancer in mutation carriers is 60 to 85% ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:live born infants die within few hours of birth ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:live born infants die within few hours of birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:majority of children die between 6 months and 5 yrs ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of children die between 6 months and 5 yrs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:male-to-female ratio, 1.8 to 1 ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:male-to-female ratio, 1.8 to 1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:manifests in infancy (including neonatal lethal) or childhood ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:many patients become wheelchair-bound ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:may be asymptomatic ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:may be lethal in the neonatal period ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be lethal in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:mean age at diagnosis 8.8 years (range 0.2-23 years) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:mean age at onset of bone fractures, 24 years ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of bone fractures, 24 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:median age at diagnosis, 59 years ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age at diagnosis, 59 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:median onset of neurologic symptoms is 13 years (range 5 to 28) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:median survival 5.7 years ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:median survival 5.7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:mild asymmetric regional disease (e.g. 180380.0029) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:onset in first decade after normal early development ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade after normal early development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:onset of visual dysfunction in early childhood ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of visual dysfunction in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:two families with confirmed adra2b mutations have been reported (last curated june 2015) ---
r_associated #0: 34 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=34
- en:retinitis pigmentosa ---
r_associated #0: 33 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinitis pigmentosa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=33
- en:adult onset (wide range of age) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (wide range of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:autosomal recessive inheritance with earlier onset has been reported in 3 patients ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:average age at diagnosis 17.8 years (range 2-35 years) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:average onset 6-10 months (range 3-24) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:average onset 6-10 months (range 3-24) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:blisters are precipitated by minor skin trauma ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:blisters are precipitated by minor skin trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:boys are more often affected than girls (3:2) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:boys are more often affected than girls (3:2) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:caused by inheritance of the mutation on the paternal allele (imprinting) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:childhood onset ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:chronic course with exacerbations and remissions ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:chronic course with exacerbations and remissions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- 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: 32 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:drug-induced dyskinesias occur in a subset of patients ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:estimated frequence 1/3000 to 1/5000 ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:female carriers may show intermittent hematuria ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may show intermittent hematuria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:females often show milder phenotype with later onset of cardiac symptoms ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:heterozygous females more mildly affected than hemizygous males ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:high recurrence rate ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:high recurrence rate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:highly variable phenotype with respect to facial dysmorphism and neurologic features ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:homozygotes have more severe disease with earlier onset of thrombosis ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:hyperkeratosis often present at birth but may appear later ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperkeratosis often present at birth but may appear later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:improvement with age ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:improvement with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:in severe attacks, hemiplegia or coma may last days to weeks ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:in the absence of hydrops, death occurs within 3 months ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 1.5 million births ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 1.5 million births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 100,000 births ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 100,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 3,500 boys ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 3,500 boys | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 57,000 ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 57,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:independent ambulation is maintained ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:independent ambulation is maintained | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:insidious onset ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:insidious onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:intermittent exacerbations ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:intermittent exacerbations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:itch, pain, and body malodor often ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:itch, pain, and body malodor often | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:joint laxity decreases with age ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:joint laxity decreases with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:late adult onset (after age 55 years) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:late adult onset (after age 55 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:life-threatening infections ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:life-threatening infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:liver disease may be the most predominant finding ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver disease may be the most predominant finding | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:madelung deformity more frequent and more severe in females ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:madelung deformity more frequent and more severe in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:majority of cases diagnosed at age 10-15 years ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases diagnosed at age 10-15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:males tend to have earlier onset than females ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:males tend to have earlier onset than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:maternal imprinting ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal imprinting | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:may be triggered by minor head trauma ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be triggered by minor head trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:may not be clinically manifest until middle life ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:may not be clinically manifest until middle life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:may progress to other body regions after many years ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:may progress to other body regions after many years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:mean age at onset 10.6 years ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 10.6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:mean age at onset 28 years ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 28 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:mean age at onset 66.8 years (range 47-77) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:mean age of onset, 5 years ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset, 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:onset of lymphedema around puberty ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lymphedema around puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- 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: 32 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:some patients have onset in second decade of life ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have onset in second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:two sibs have been reported (last curated november 2015) ---
r_associated #0: 32 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=32
- en:a milder form has also been reported ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:a milder form has also been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:affected individuals may have more than 1 cardiac structural defect, or none at all ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:age at onset 8 to 55 years (mean 40 years) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:allelic disorder to early-onset sarcoidosis (609464) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:associated with hemodialysis ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with hemodialysis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:based on one sib pair each in their seventies ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one sib pair each in their seventies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:clinical variability, both pure and complicated forms ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical variability, both pure and complicated forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:coloboma is associated with larger microdeletion (490kb) of 11q13 ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:death often occurs in childhood ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often occurs in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:death usually in first year of life ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:dwarfism not detectable at birth ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:dwarfism not detectable at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:earlier onset is associated with a more severe disorder ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset is associated with a more severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:early death may occur ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:exacerbated by stress ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbated by stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:facial dysmorphic features are mild ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:facial dysmorphic features are mild | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:genetic heterogeneity (see 605407) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 605407) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:highly variable phenotype, even within families ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype, even within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:highly variable phenotype, some adults may be asymptomatic ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- 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:no consistent dysmorphic facial phenotype
n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:incidence 1/100,000 - 1/200,000 live births ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:incidence of 1 in 50,000 to 1 in 100,000 ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:incomplete penetrance of optic atrophy ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance of optic atrophy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:incomplete penetrance with 45 to 51 repeats ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:increased recurrence risk with parental translocation ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased recurrence risk with parental translocation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:increased susceptibility to multiple carcinomas ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to multiple carcinomas | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:infants show normal size and appearance ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants show normal size and appearance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:intermediate expression in females ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:intermediate expression in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:lesions provoked by friction, sun exposure, heat, and injury ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:less than 20% have onset at 18 years of age or less (dominant and recessive) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:liver size returns to normal after 3 months to 3 years ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver size returns to normal after 3 months to 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:major cause of death is heart failure ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:major cause of death is heart failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:major fluid shifts may occur in severe cases ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:major fluid shifts may occur in severe cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:male to female ratio is greater than 3:1 ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:male to female ratio is greater than 3:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:males may be more affected than females ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:males may be more affected than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:marked heterogeneity ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:marked intrafamilial variability of clinical features ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked intrafamilial variability of clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:maternal anticipation bias ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal anticipation bias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:may occur in adults (also in pregnancy) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:may occur in adults (also in pregnancy) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:mean age at onset 46.5 years (range 19-64) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:mean survival 5 months ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean survival 5 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:median survival is > 50 years ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:median survival is > 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:mesomelia becomes more evident with age ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:mesomelia becomes more evident with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:midline defects ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:midline defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:one patient reported (last curated november 2012) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:retinal holes were present in an asymptomatic female carrier ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:seizures remit spontaneously by age 5 years ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures remit spontaneously by age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:therapy is placement of implantable cardioverter defibrillator (icd) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:two unrelated consanguineous families have been reported (last curated july 2015) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:two unrelated families have been reported (last curated february 2016) ---
r_associated #0: 31 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
- en:about 20% of female mutation carriers may show mild muscle weakness ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:adult onset (20 to 50 years) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (20 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:age of onset ranges from 1 to 47 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset ranges from 1 to 47 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:autosomal recessive form (277720) has also been described ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive form (277720) has also been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:based on one large dutch family (last curated august 2015) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one large dutch family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:both autosomal dominant and autosomal recessive inheritance has been described ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:cardiac examination is usually unremarkable ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac examination is usually unremarkable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:death due to rapidly progressive pulmonary fibrosis in infancy ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:death from pneumonia ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:death from pneumonia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:death in majority of infants soon after birth ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in majority of infants soon after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- 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: 30 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:diagnosis within the first 3 months of life ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis within the first 3 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:early onset (9-48 years, but reported up to 68 years) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:facial palsy often transient in infancy ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:facial palsy often transient in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:family a had a severe multisystem disorder resulting in death before age 2 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:fatal before age 2 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:favorable response to 3,4-diaminopyridine ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to 3,4-diaminopyridine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:female carriers may be mildly affected ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may be mildly affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:frequency and severity of symptoms do not worsen with age ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency and severity of symptoms do not worsen with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:gastric suction pump, home model, portable or stationary, electric ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:gonadal and somatic mosaicism reported in parent ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:gonadal and somatic mosaicism reported in parent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:heterozygous mutation carriers may have late-onset of mild symptoms ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:high frequency of absence seizures (several per day) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency of absence seizures (several per day) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:high frequency of levodopa-induced dyskinesias ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency of levodopa-induced dyskinesias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:highly variable frequency and duration of episodes ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable frequency and duration of episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:incidence 1-1.5/1,000 live births ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1-1.5/1,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:incidence of 1 in 10,000 to 1 in 20,000 ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:incomplete penetrance (50%) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance (50%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:increased sensitivity to valproic acid toxicity ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased sensitivity to valproic acid toxicity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:infantile form accounts for 90% of cases ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile form accounts for 90% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:infantile onset with hepatic involvement ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile onset with hepatic involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:intracellular accumulation of material can occur in neuronal and nonneuronal cells ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:juvenile form has onset between 4 and 19 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile form has onset between 4 and 19 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:late-adult onset ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:late-onset, slowly progressing form of retinitis pigmentosa ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:later onset can also occur (up to age 17 years) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset can also occur (up to age 17 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:levodopa-induced dyskinesias ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:levodopa-induced dyskinesias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:limb malformations are variable ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:limb malformations are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:manifestations continue to appear until 5th decade ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:manifestations continue to appear until 5th decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:may be precipitated by minor illness (e.g., viral infection, fever) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:mean age at onset 22 years (range 7 to 50 years) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:mean age at onset 35 years (range 20-60) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 35 years (range 20-60) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:mean age at onset 57-60 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 57-60 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:mean age at termination 3 to 4 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at termination 3 to 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:mean age of onset 22 years (range 5-54) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 22 years (range 5-54) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:median age of diagnosis is 28 years ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of diagnosis is 28 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:median age of onset of nail dystrophy - 7 years (range 1-6 years) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:penetrance estimated to be 80% ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance estimated to be 80% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:weakness during pregnancy in some affected females has been reported ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=en:weakness during pregnancy in some affected females has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- léthal ---
r_associated #0: 30 -->
en:no consistent dysmorphic facial phenotype
n1=léthal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=30
- en:adrenal insufficiency usually develops later (first decade) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:affected individuals have a relatively mild ichthyosis phenotype ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:age at onset from 3 to 51 years (mean 19.2 years) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:approximately 40% of cases are inherited or new germline mutations ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:attacks more common in women ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks more common in women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:child often can sit unsupported but never ambulates ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:child often can sit unsupported but never ambulates | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:classic severe form shows onset at 2 to 3 months of age ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:earlier onset is associated with more rapid progression ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset is associated with more rapid progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:early death occurs in affected infants (days to months after disease onset) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:fracture frequency decreased post puberty ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:fracture frequency decreased post puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:great variation in extent of hypertrophy in mutation-positive individuals ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:hair regrowth may occur later in life ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair regrowth may occur later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:heterozygotes are not affected ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes are not affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:heterozygous females may exhibit variable degrees of enzyme deficiency ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:incidence 1 in 8,000 live births ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 8,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:incidence of 1 in 100,000 to 125,000 at birth ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:incidence ranges from 1 in 40,000 to 1 in 350,000 births ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:increased paternal age ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased paternal age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:infantile onset ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:intrafamilial variability in number of missing teeth ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in number of missing teeth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:juvenile onset 4 years to puberty ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile onset 4 years to puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:later onset of neurologic features ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset of neurologic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:liveborn often die within first week of life ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:liveborn often die within first week of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:majority are isolated cases ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority are isolated cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:majority of patients have normal intelligence ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients have normal intelligence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:many adults with typical form remain ambulatory ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:many adults with typical form remain ambulatory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:marked clinical variability within families ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked clinical variability within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:may regress ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:may regress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:mean age at onset 24 years (range 14 to 33 years) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:mean age at onset of dementia is 57 years ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of dementia is 57 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:mean age at onset of migraines is 42 years ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of migraines is 42 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:mean age of onset 30 years (range 25-42) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 30 years (range 25-42) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:medial onset of end stage renal disease 13 years ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:medial onset of end stage renal disease 13 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:median age of onset of pigmentation - 8 years (range 1-15 years) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:most patients become wheelchair-bound in the second or third decades ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:one patient has been reported (last curated august 2015) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:onset in first decade (as early as infancy in some) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (as early as infancy in some) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:onset of night blindness varies among patients from early childhood to mid thirties ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:onset usually in childhood or adolescence ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:osteoglophonic, derived from greek meaning hollowed out ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:patients may die in infancy or childhood due to respiratory failure ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:surviving males are postzygotic mosaic for ebp mutations ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:three fetuses from 1 family have been reported (last curated august 2015) ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- létale ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=létale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- rétinite pigmentaire liée au sexe récessive 3 ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- rétinite pigmentaire sénile ---
r_associated #0: 29 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire sénile | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=29
- en:adult onset has been reported ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:age of onset of distal lower limb weakness 8-16 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:allelic to metaphyseal dysplasia without hypotrichosis (250460) ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:average disease duration of 7 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:average disease duration of 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:based on report of 4 patients from 1 family (last curated july 2015) ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:compound heterozygosity common ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:compound heterozygosity common | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:death in infancy secondary to respiratory insufficiency/pneumonia ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:death may occur in infancy ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:death may occur in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:early adult onset has been reported ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:early adult onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:estimated frequency 1/2000-1/4000 individuals ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:extrapyramidal signs show a favorable response to levodopa ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:eye involvement begins at birth, neurologic involvement begins later ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:genetic heterogeneity (see 161800) ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 161800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:hearing loss occurs later if at all ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss occurs later if at all | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:heterozygous females may have situs inversus or other midline defects ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:high frequencies affected before low frequencies ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequencies affected before low frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:highly variable severity and features ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable severity and features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:icelandic families ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:icelandic families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:infantile form has onset within first 6 months of life ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile form has onset within first 6 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:ketogenic diet may be effective ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:ketogenic diet may be effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:late infantile onset 6-24 months ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:late infantile onset 6-24 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:later onset has been reported ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:left sided involvement occurs more frequently ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:left sided involvement occurs more frequently | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:leg pain during childhood ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:leg pain during childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:loss of ambulation ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:lower limb weakness is presenting feature ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:lower limb weakness is presenting feature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:majority of cases are male ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases are male | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:majority of children die before age 2 ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of children die before age 2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:majority of patients are stillborn or die before 5 months of age ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:majority of patients die in neonatal period secondary to respiratory insufficiency ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:marked intrafamilial and interfamilial variability ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked intrafamilial and interfamilial variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of diagnosis 40 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of diagnosis 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of onset 16 to 19 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 16 to 19 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of onset 20.6 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 20.6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of onset 35-40 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 35-40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of onset about 62 years (45-79 years) ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset about 62 years (45-79 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:mean age of onset in third decade ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset in third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:median age at onset 23 years ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age at onset 23 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:pigmentation not always butterfly-shaped ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:pigmentation not always butterfly-shaped | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:precipitation by pregnancy ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitation by pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:skewed x-inactivation, with complete skewing in some individuals ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- rétinopathie pigmentaire ---
r_associated #0: 28 -->
en:no consistent dysmorphic facial phenotype
n1=rétinopathie pigmentaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=28
- en:age at onset 14 to 44 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset 14 to 44 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:average age at onset between 40 and 50 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset between 40 and 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:childhood or adolescent onset (usually less than 25 years) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:contractures other than plantar are less common and less severe ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:contractures other than plantar are less common and less severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:deafness tends to occur before other neurologic signs, except in patients with very early onset ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:death secondary to respiratory infection or failure before age 2 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:distinct from pseudopili annulati (613241) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct from pseudopili annulati (613241) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:diurnal fluctuation of neurologic symptoms ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:diurnal fluctuation of neurologic symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:excessive postsurgical blood loss ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:excessive postsurgical blood loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:first fracture in early childhood ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:first fracture in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:fishy body odor ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:fishy body odor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:genetic heterogeneity (see mcc1 deficiency 210200) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:high risk of recurrence after surgery ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:high risk of recurrence after surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:highly variable phenotype and severity ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:hyperthermia in early childhood ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperthermia in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:incidence of 1 in 5,000 to 1 in 10,000 ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:increased risk of early death ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:infections may precipitate ketotic episodes ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:infections may precipitate ketotic episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:inheritance pattern is unclear ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:inheritance pattern is unclear | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:isolated finding ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:isolated finding | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:lifelong occurrence ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifelong occurrence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:majority are stillborn or die in early neonatal period ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority are stillborn or die in early neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:majority die in neonatal period secondary to respiratory insufficiency ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:majority of cases have been sporadic ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases have been sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:majority of cases sporadic ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:many cases are asymptomatic ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:mean age at onset 15.2 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 15.2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:mean age at onset 32 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 32 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:mean age at onset of proximal muscle weakness, 31 years ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:medullary thyroid cancer is aggressive and can occur in childhood ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:nine patients have been reported (last curated july 2015) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:nine patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:no extraocular findings ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:no extraocular findings | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:some patients may show normal early development before seizure onset ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show normal early development before seizure onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:three unrelated families have been reported (last curated october 2015) ---
r_associated #0: 27 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=27
- en:absence seizures show onset between 3.5 and 4 years ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:age of onset between 5 and 10 years of age ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset between 5 and 10 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:all features are unilateral ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:all features are unilateral | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:allelic disorder to benign hereditary chorea (118700), which is less severe ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:allelic disorder to potassium-aggravated myotonia (608390) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:approximately 70-80% of cases are de novo and sporadic ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- 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: 26 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:asymptomatic patients may show changes on sd-oct ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymptomatic patients may show changes on sd-oct | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:autoimmune features are variable ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:autoimmune features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:autosomal recessive disorder tends to be more severe ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive disorder tends to be more severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:average onset of seizures 6 months (range 3-12) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:average onset of seizures 6 months (range 3-12) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:based on one jordanian family (last curated august 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one jordanian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:based on report of 2 individuals (last curated november 2013) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:both mutations occurred de novo ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:both mutations occurred de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:congenital onset ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:death before age 40 ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:death before age 40 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:death in infancy in 2 patients ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy in 2 patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:death usually in childhood ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:disease shows slow progression ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease shows slow progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:early death in males ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:elevated body temperatures to 42 degrees celsius ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:elevated body temperatures to 42 degrees celsius | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:episodes last from several hours to days ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes last from several hours to days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:familial occurrence is rare ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial occurrence is rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:four patients from 3 families have been reported (last curated march 2016) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:fractures can occur in utero, during labor and delivery, or in newborn period ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:full recovery after attacks ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:full recovery after attacks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:gradual progression ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:gradual progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:hands clenched at birth but loosen in infancy ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:hands clenched at birth but loosen in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:hepatic failure develops in first months of life ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:hepatic failure develops in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:hepatomegaly improves with age and disappears around puberty ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:highly variable frequency and severity of attacks ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable frequency and severity of attacks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:hypothyroidism is less severe in individuals with high dietary iodine intake ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:incidence of 1 in 120,000 live births ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 120,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:increased aneuploidy in offspring ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased aneuploidy in offspring | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:infants may have acute life-threatening crises ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants may have acute life-threatening crises | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:interfamilial and intrafamilial clinical heterogeneity ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:later onset may occur ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:left side involvement more frequent than right side involvement ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:left side involvement more frequent than right side involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:lesions apparent at birth ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions apparent at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:lethal in utero or perinatal lethal ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in utero or perinatal lethal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:liver symptoms improve with age and disappear after puberty ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver symptoms improve with age and disappear after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:may have seasonal variance in severity ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:may have seasonal variance in severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:may show good response to levodopa ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:may show good response to levodopa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:mean age at onset 33 years (range 20-60) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 33 years (range 20-60) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:mean age of onset 31 years (range 5-60) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 31 years (range 5-60) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:mean age of onset 50 to 52 years ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 50 to 52 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:milder form with onset in childhood, absence seizures, and learning difficulties ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:one family and 2 unrelated patients have been reported (last curated december 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:onset of overgrowth in the first year of life (in most cases) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:recurrent episodes of liver failure during intercurrent infections ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:relatively mild phenotype ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively mild phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:symptoms present from infancy or early childhood ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms present from infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:three unrelated patients have been reported (last curated december 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:three unrelated patients have been reported (last curated july 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:two unrelated families have been reported (last curated october 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- en:two unrelated patients have been reported (last curated august 2015) ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- rétinite pigmentaire, surdité, retard mental, et hypogonadisme ---
r_associated #0: 26 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=26
- rétinite pigmentaire liée à la rhodopsine ---
r_associated #0: 25 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire liée à la rhodopsine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=25
- rétinite pigmentaire et retard mental ---
r_associated #0: 24 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire et retard mental | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=24
- rétinite pigmentaire liée à la périphérine ---
r_associated #0: 24 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire liée à la périphérine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=24
- rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) ---
r_associated #0: 23 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=23
- rétinite pigmentaire liée à la périphérine (pro219leu) ---
r_associated #0: 23 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=23
- rétinite pigmentaire ---
r_associated #0: 21 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=21
- en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:'second wind' phenomenon ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:'second wind' phenomenon | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:'variant' form of x-linked cgd retains residual cytochrome b(-245) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(1) classic severe (onset of symptoms 4 to 7 days of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(1) infantile nephropathic (219800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(1) infantile nephropathic (219800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(2) intermittent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(2) intermittent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(2) juvenile or adolescent nephropathic (219900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(3) intermediate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(3) intermediate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(4) thiamine-responsive form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(4) thiamine-responsive form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:(5) dihydrolipoyl dehydrogenase (e3)-deficient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:1 in 17,000 in china ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:1 in 17,000 in china | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:1 in 19,000 in japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:1 in 19,000 in japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:1 in 50,000 in korea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:1 in 50,000 in korea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:1 patient reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:1 patient reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:10% due to paternal deletion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:10% due to paternal deletion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:12% due to epimutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:12% due to epimutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:13% of cases secondary to familial translocation (often maternally derived) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:14 patients in 8 recessive kindreds reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:14% of patients survive with polyhydramnios ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:14% of patients survive with polyhydramnios | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:15 patients from 5 kindreds reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:15% cases are familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:15% cases are familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:2 patients described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:2 patients described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:2% due to paternal uniparental disomy of 15q11.2-q13 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:2-3% due to imprinting defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:2-3% due to imprinting defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:20% die before age one (usually secondary to renal or laryngeal defects) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:20-40% patients are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:20-40% patients are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:21 patients from 17 kindreds reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:21% of hereditary wilms tumor are bilateral ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:21% of hereditary wilms tumor are bilateral | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:23 patients from 2 kindreds reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:25% due to mutations in ube3a (601623) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:25% due to mutations in ube3a (601623) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:2:1 female preponderance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:2:1 female preponderance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:3 reported cases, 1 pedigree of affected sibs, neither parent affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:35% of patients have facial dysmorphism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:35% of patients have facial dysmorphism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:40 patients in 16 dominant kindreds reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:40% patients have associated abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:40% patients have associated abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:46,xx carriers are unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:46,xx carriers are unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:46,xy carriers are unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:46,xy carriers are unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:5-10% of all wilms tumor are bilateral ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:5-10% of all wilms tumor are bilateral | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:50% of cases are de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:50% of cases are de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:50% of females have learning disability or mild mental retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:50% of females have learning disability or mild mental retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:7 unrelated patients have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:7 unrelated patients have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:70% due to de novo maternal deletion of 15q11.2-q13 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:75% of affected individuals are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:75% of affected individuals are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:78% due to chromosome 14 maternal uniparental disomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:80% cases new mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:80% cases new mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:85-90% with manifestations in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:85-90% with manifestations in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:87% patients are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:87% patients are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:94% develop hypertension at 18 years of age or less ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:94% develop hypertension at 18 years of age or less | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:95% of cases are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:95% of cases are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:98% of finnish cases due to one mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:98% of finnish cases due to one mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:99+% of the mutations are fgfr3, g380r (134934.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a minority of patients have onset after age 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a minority of patients have onset after age 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a mutation in the cxorf5 gene has been reported in 1 affected family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a nonspecific marker of somatic mosaicism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a nonspecific marker of somatic mosaicism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a pair of monozygotic twins have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a pair of monozygotic twins have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a second family had mild intellectual disability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a second family had mild intellectual disability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a second patient died at age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a second patient died at age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a severe infantile variant has been rarely reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a severe infantile variant has been rarely reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subgroup of patients with sponastrime dysplasia have severe mental retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients are responsive to vitamin b12 therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients have a 'visual variant' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients have a 'visual variant' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients have heterozygous mutations, which may predispose to disease development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients improve with thiamine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients improve with thiamine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a subset of patients may have congenital abnormalities of the ocular anterior segment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:a wnt3 mutation has been identified in 1 affected family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:abnormal morphogenesis of first and second branchial arches ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:abnormal transferrin pattern tends to improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:abnormal transferrin pattern tends to improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 10% of patients have a severe early onset in the first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 15% of female carriers develop renal insufficiency in the second or third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 25% of cases due to new mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 25% of cases due to new mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 5% of patients have a history of febrile seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 5% of patients have a history of febrile seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 50% of mutation carriers are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 50% of mutation carriers are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 50% of patients become wheelchair-bound at an average age of 37 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 50% of patients have intellectual disability and/or hydrocephalus ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about 8% of female mutation carriers develop dilated cardiomyopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about a dozen patients have been reported (as of march 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about half of individuals are asymptomatic and identified by newborn screening programs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about half of patients become wheelchair bound after long duration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about half of patients become wheelchair bound after long duration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about half of patients report vestibular symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about half of patients report vestibular symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:absence of both inner and outer dynein arms of cilia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:absence of both inner and outer dynein arms of cilia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:absence of premature birth, low birthweight, and exposure to oxygen ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:absence seizures usually remit by puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:absence seizures usually remit by puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acanthosis nigricans fades during adolescence and reappears in pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for 1-2% of lymphomas in adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for 1-2% of lymphomas in adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for 30-50% of lymphomas in children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for 30-50% of lymphomas in children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for 5-15% of childhood epilepsies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for 5-15% of childhood epilepsies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for 70% of all usher syndrome patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for 70% of all usher syndrome patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for <2% of patients with alzheimer's disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:accounts for approximately 5% of the epilepsies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:accounts for approximately 5% of the epilepsies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acetazolamide is often effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acetazolamide is often effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acetazolamide may benefit attacks of vertigo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acetazolamide may benefit attacks of vertigo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired autoimmune disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired autoimmune disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired protein c deficiency seen in liver disease, dic, and following surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acquired sporadic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acquired sporadic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acral form of skin peeling limited to hands and feet (609796) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acral hemorrhagic variant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acral hemorrhagic variant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acute attacks lasting 24-48 hours ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acute attacks lasting 24-48 hours | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acute attacks rarely occur before puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acute attacks rarely occur before puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acute encephalopathic episodes may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acute encephalopathic episodes may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acute episodes decrease with age and disappear ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acute episodes decrease with age and disappear | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:acute neurologic deterioration after viral illness has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adams-stokes syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adams-stokes syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:additional developmental abnormalities may be seen in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:additional developmental abnormalities may be seen in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:additional features are variably present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:additional features are variably present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adolescent or adult onset associated with neuropsychiatric symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult form is asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult form is asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult form onset has after 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult form onset has after 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (18 to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (18 to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (20 to 40 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (20 to 40 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (25-45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (25-45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (27 to 48 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (27 to 48 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (37 to 57 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (37 to 57 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (40 to 60 years old) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (40 to 60 years old) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (45 to 76 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (45 to 76 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (after age 35 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (after age 35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (before 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (before 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean 27 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean 27 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean 30 years, range 10-65 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean 30 years, range 5-60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean age 37 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean age 37 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mean of 30 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mean of 30 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (mid-forties) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (mid-forties) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 12 to 59 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 12 to 59 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 14 to 70 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 14 to 70 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 15 to 53 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 15 to 53 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 19 to 48 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 19 to 48 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 28 to 55 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 28 to 55 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 30 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 30 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 34 to 66 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 34 to 66 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 40 to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 40 to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (range 45 to 70 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (range 45 to 70 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (second to sixth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (second to sixth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (sixth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (sixth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (third decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (third decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset (thirties to forties) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset (thirties to forties) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset - 100-1,000 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset - 100-1,000 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset after puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset form usually presents with psychiatric manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset from second to seventh decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset from second to seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset has been rarely reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset has been rarely reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset has been reported (age 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset has been reported (age 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset may also occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset may also occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset of gait abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset of gait abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset of muscle symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset of muscle symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset of neurologic symptoms (range 30 to 46 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset of neurologic symptoms (range 30 to 46 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset of neurologic symptoms has been reported in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset of symptoms has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset of symptoms has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset rarely reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset rarely reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult onset, usually 30's to 40's, but up to early 60's ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult-onset (range early twenties to forties) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult-onset (range early twenties to forties) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult-onset in third to fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult-onset in third to fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adult-onset is referred to as small fiber neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adults may be asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adults may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:adults may lose ability to walk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:adults may lose ability to walk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected females are infertile ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected females are infertile | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected females have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected females have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected females may have increased spontaneous abortions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected females may have increased spontaneous abortions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected fetuses frequently undergo spontaneous abortion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected fetuses frequently undergo spontaneous abortion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals are highly prone to burn-related injuries ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals are highly prone to burn-related injuries | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals are negative for dermatographism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals are negative for dermatographism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals die soon after birth due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals die soon after birth due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals have amnesia for events ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals have amnesia for events | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals may have biallelic or heterozygous mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals may have biallelic or heterozygous mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals may have learning or behavioral problems during the period when seizures occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals remain ambulatory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals remain ambulatory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected individuals remain ambulatory in old age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected individuals remain ambulatory in old age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected infants appear normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected infants appear normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected infants appear normal at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected infants appear normal at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected infants die in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected infants die in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected infants often die in utero or in the postnatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected infants often die in utero or in the postnatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males are all result of new mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males are all result of new mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males are infertile, whereas affected females have recurrent pregnancy loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males are somatic mosaic for mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males are somatic mosaic for mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males have normal pubertal development and are fertile ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males have normal pubertal development and are fertile | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males have onset of poor vision before the age of 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males have serotonin-related disorders such as migraine headaches and diabetes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males show onset of hematuria in first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males show onset of hematuria in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected males who survive are secondary to new mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected males who survive are secondary to new mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected patients have various combinations of the main clinical features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected patients have various combinations of the main clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affected, mild - 50-150 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affected, mild - 50-150 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affects 1 in 250,000 to 1 million people worldwide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affects 1 to 3% of the population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affects 1 to 3% of the population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affects between 1 in 200 to 1 in 400 individuals of northern european descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affects up to 10% of the population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affects up to 10% of the population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:affects up to 10% of women in their reproductive years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:affects up to 10% of women in their reproductive years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at death:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at death:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis 2-4 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 2-4 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis 26 +/- 14 years for recessive disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis 28 +/- 18 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 28 +/- 18 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis 36 +/- 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 36 +/- 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis 9 +/- 6 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis 9 +/- 6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at diagnosis of cataract may range up to 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at first pregnancy:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at menarche:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at menopause:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset 15 to 25 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset 15 to 25 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset 15 to 33 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset 15 to 33 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset 3 to 23 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset 3 to 23 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset can range from infancy to childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset can range from infancy to childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset in females ranges from childhood to the fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset in males ranges from 3 to 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset in males ranges from 3 to 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset most often in childhood (first decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset most often in childhood (first decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from 16 years to 65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from 16 years to 65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from 50 to 70 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from 50 to 70 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from childhood to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from childhood to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from early childhood to after age 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from early childhood to after age 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from first to sixth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from first to sixth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age at onset ranges from neonatal to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age at onset ranges from neonatal to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset - birth to 15 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset - birth to 15 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 1 to 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 1 to 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 17 to 68 years (mean 39) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 17 to 68 years (mean 39) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 2-8 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 2-8 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 20-65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 20-65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 23-59 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 23-59 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 28 to 70 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 28 to 70 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 30 to 60 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 30 to 60 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 36 to 55 years (mean 47) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 36 to 55 years (mean 47) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 43-64 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 43-64 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 5 to 19 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 5 to 19 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 5 to 22 years (mean 6.9) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 5 to 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 5 to 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset 6-12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset 6-12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset between 20 to 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset between 20 to 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset between 6 and 45 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset between 6 and 45 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset between 6 to 10 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset between 6 to 10 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset from 10 to 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset from 10 to 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset from 18 to 45 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset from 18 to 45 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset from third to sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset from third to sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset of upper limb involvement 10-43 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset of upper limb involvement 10-43 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset ranges from infancy to young adulthood (6 months-19 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset ranges from neonate to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset ranges from neonate to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset varies (7 to 28 years of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset varies (7 to 28 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset varies between 18 years and 53 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset varies between 18 years and 53 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset varies from 5-32 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset varies from 5-32 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset within the first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset within the first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age of onset, 6-20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age of onset, 6-20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age on onset - adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age on onset - adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age-dependent penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age-dependent penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age-related clinical course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age-related clinical course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age:time:pt:^egg donor:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age:time:pt:^egg donor:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age:time:pt:^patient:qn:calculated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age:time:pt:^patient:qn:calculated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age:time:pt:^patient:qn:estimated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age:time:pt:^patient:qn:estimated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:age:time:pt:^patient:qn:reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:age:time:pt:^patient:qn:reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:aggravated by physical activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:aggravated by physical activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:aggressive malignancies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:aggressive malignancies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alcohol may alleviate symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alcohol may alleviate symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all affected individuals have been stillborn or died in the neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases are de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases are de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases due to de novo mutation (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases from a remote village, sabinas, in northern mexico ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases have been sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases have been sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases have been stillborn or immediate neonatal death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases have been stillborn or immediate neonatal death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases occur in a jewish religious isolate originally from cochin, india ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases occur in old order amish, lancaster county, pennsylvania ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all cases presumed de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all cases presumed de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all patients have duplication of at least the crebbp gene (600140) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all patients have severe hearing loss 10 to 15 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported cases have de novo mutations (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported cases have occurred de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported cases have occurred de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported cases have occurred sporadically ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported cases have occurred sporadically | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported cases have resulted from de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported cases have resulted from de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported cases result from de novo mutation (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported mutations have occurred de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported mutations have occurred de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:all reported patients are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:all reported patients are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder is brugada syndrome (601144) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder is brugada syndrome (601144) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder is long qt syndrome-3 (lqt3, 603830) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to adult polyglucosan body disease (263570) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to androgen insensitivity syndrome (ais, 300068) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal dominant form (129490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal dominant spg13 (605280) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal recessive form (224900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to brachydactyly type b (113000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to charcot-marie-tooth disease type 1a (118220) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to child syndrome (308050) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to child syndrome (308050) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to cln8 (600143) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to cln8 (600143) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to cmt4a (214400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to cmt4a (214400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to duane-radial ray syndrome (drrs, 607323) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to glut1 deficiency syndrome 1 (606777) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to ifap syndrome (308205) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to ifap syndrome (308205) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to infantile neuroaxonal dystrophy (256600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to juvenile nephronophthisis-1 (256100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to limb-mammary syndrome (lms, 603543) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to long qt syndrome-1 (lqt1, 192500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to margarita island type of ectodermal dysplasia (225060) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to nf1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to nf1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to nieman-pick disease type b (607616) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to niemann-pick disease type a (257200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to northern epilepsy (610003) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to northern epilepsy (610003) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to opitz-kaveggia syndrome (305450) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to paramyotonia congenita (168300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to parkinson disease-1 (park1, 168601) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to primary erythermalgia (133020) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to rett syndrome (312750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to rett syndrome (312750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to rippling muscle disease (rmd, 606072) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to schindler disease (609241) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to schindler disease (609241) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to spastic paraplegia-3 (spg3, 182600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to spinal muscular atrophy type i (253300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to stickler syndrome 3 (184840) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to the ivic syndrome (147750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to the zlotogora-ogur syndrome (225000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to type iv glycogen storage disease (232500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to usher syndrome type 1f (602083) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorders with clinical overlap include dss and cmt1b (118200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to acrocapitofemoral dysplasia (607778) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to acrokeratosis verruciformis (101900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to aicardi-goutieres syndrome (225750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to anterior segment mesenchymal dysgenesis (107250) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to autosomal recessive pxe (264800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to autosomal recessive pxe (264800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to bardet-biedl syndrome 6 (209900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to birt-hogg-dube syndrome (135150) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to brachydactyly, type a1 (112500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to brachydactyly, type a2 (112600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to cartilage-hair hypoplasia (250250) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to cowden disease (158350), which has a later age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to craniometaphyseal dysplasia (123000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to deafness, autosomal recessive 12 (601386) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to deafness, autosomal recessive 23 (609533) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to dentin dysplasia, type 2 (125420) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to dentinogenesis imperfecta 1 (125490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to dyggve-melchior-clausen disease (223800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to early-onset familial alzheimer disease (ad1, 104300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to ellis-van creveld syndrome (225500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to enhanced s-cone syndrome (268100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to hand osteoarthritis (607850) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hand osteoarthritis (607850) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to hawkinsinuria (140350) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hawkinsinuria (140350) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to infantile sialic acid storage disorder (269920) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to kenny-caffey syndrome type 1 (244460) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to leopard syndrome (151100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to leopard syndrome (151100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to marshall syndrome (154780) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to marshall syndrome (154780) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to mevalonic aciduria (610377) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to mevalonic aciduria (610377) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to mucolipidosis ii (252500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to mucolipidosis ii (252500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to mucopolysaccharidosis ivb ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to mucopolysaccharidosis ivb | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to multiple pterygium syndrome, lethal type (253290) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to myosin storage myopathy (608358) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to myosin storage myopathy (608358) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to naxos disease (601214) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to naxos disease (601214) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to nephronophthisis 4 (606966) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to nephronophthisis 4 (606966) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to neurofibromatosis-1 (nf1, 162200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to noonan syndrome (163950) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to noonan syndrome (163950) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to pachyonychia congenita jackson-lawler type (167210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to pendred syndrome, deafness with goiter (274600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to pseudoachondroplasia (177170) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to pseudoachondroplasia (177170) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to rett syndrome (312750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to rett syndrome (312750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to roberts syndrome (268300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to roberts syndrome (268300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to robinow syndrome, autosomal recessive (268310) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to senior-loken syndrome 4 (606996) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to several forms of autosomal recessive cmt (see 214400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to sialuria, finnish type (604369) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to sialuria, finnish type (604369) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to trp1 (190350) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to trp1 (190350) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to tyrosinemia, type iii (276720) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to usher syndrome, type id (601067) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to usher syndrome, type id (601067) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to waardenburg syndrome, type iia (193510) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic with cone-rod dystrophy 10 (610283) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic with retinitis pigmentosa 35 (610282) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:allelic with smith-mccort dysplasia (607326) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:almost all patients require total parenteral nutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:almost all patients require total parenteral nutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alopecia may spontaneously regress, become chronic, or spread diffusely ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alopecia usually occurs around puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alopecia usually occurs around puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alpha-l-iduronidase activity is <1% for all forms of mps1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:also called 'heterozygous osmed' and 'autosomal dominant osmed' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ambulation is preserved ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ambulation is preserved | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ambulation is usually maintained during adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ambulation is usually maintained during adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ambulation usually not achieved ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ambulation usually not achieved | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:amelioration with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:amelioration with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:an autosomal recessive form has been reported (269720) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:an autosomal recessive form has been reported (269720) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia does not respond to alpha-interferon treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia does not respond to alpha-interferon treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia is not responsive to pyridoxine supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia is not responsive to pyridoxine supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia is transfusion-dependent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia is transfusion-dependent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia may be responsive to iron chelation treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia may be responsive to iron chelation treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia may show favorable response to alpha-interferon treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia may show onset in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia may show onset in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia, diabetes, and deafness often show onset at different ages ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:antenatal onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:antenatal onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:antibodies can develop after pregnancy or transfusion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:antibodies can develop after pregnancy or transfusion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:aortic dissection may occur in second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:aortic dissection may occur in second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:apparent at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:apparent at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:apparent in newborn at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:apparent in newborn at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:appear normal at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:appear normal at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 10% of als cases are familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 10% of als cases are familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 12 patients have been reported (as of march 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 25% have a severe course and die of respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 35% of patients die during the first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 40% of patients die within newborn period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 40% of patients die within newborn period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 50db loss in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 50db loss in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 60% of brrs patients have pten mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 60% of brrs patients have pten mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 60% of cases are due to somatic mutations and are unilateral ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 80% of cs patients have pten mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 80% of cs patients have pten mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately half of cases are due to de novo deletions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately half of cases are due to de novo deletions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately half of cases are due to unbalanced rearrangements, which may be familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately half of patients need ambulatory support after the fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately half of the mutations are de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately half of the mutations are de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:approximately one-third of patients become seizure-free with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:approximately one-third of patients become seizure-free with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:arrhythmias detected prenatally (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:arrhythmias detected prenatally (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:arteriovenous malformations can occur throughout the body ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:arteriovenous malformations can occur throughout the body | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:arthralgia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:arthralgia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:as of 2009, one family has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:as of 2009, one family has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:assisted ambulation or wheelchair-dependent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:assisted ambulation or wheelchair-dependent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated specifically with the gba d409h mutation (606463.0006) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with a balanced translocation t(12,22)(p11.2,q13.3) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with deletion at chromosome 2q37 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with deletion at chromosome 2q37 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with fragile x syndrome (300624) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with fragile x syndrome (300624) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with fragile x syndrome (309550) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with fragile x syndrome (309550) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with idiopathic generalized epilepsy (ige, 600669) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with increased paternal age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with increased paternal age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with increasing age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with increasing age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with iron deficiency anemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with iron deficiency anemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with malignant hyperthermia (mhs, 145600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with myoclonic epilepsy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with myoclonic epilepsy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with the tau (157140) h1 haplotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with the tau (157140) h1 haplotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with tuberous sclerosis (191100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with tuberous sclerosis (191100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:associated with untreated phenylketonuria (261600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:associated with untreated phenylketonuria (261600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:association between hla class ii alleles and presence of autoantibodies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:association of cardiac events with exercise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:association of cardiac events with exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:association with autoimmune diseases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:association with autoimmune diseases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:asymmetric muscle involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymmetric muscle involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:asymptomatic heterozygotes susceptible to lead toxicity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:asymptomatic if papillary zone is spared ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymptomatic if papillary zone is spared | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:asymptomatic skin lesions begin on neck in third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:asymptomatic younger patients show characteristic basal ganglia calcifications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:at birth, there is generalized red scaly skin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:at birth, there is generalized red scaly skin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ataxia becomes evident at the end of the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ataxia becomes evident at the end of the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ataxia is nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ataxia is nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ataxia is slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ataxia is slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attack frequency may occur several times per week to once per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attack frequency may occur several times per week to once per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks are not responsive to acetazolamide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks are not responsive to acetazolamide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks may present during or after sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks often drug-induced ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks often drug-induced | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks rarely occur before puberty (hcp) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks rarely occur before puberty (hcp) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks tend to decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks tend to decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks triggered by catabolic stress, such as fever or illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks typically last for minutes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:attacks typically last for minutes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:atypical affected males, 'cardiac variants' 301500.0005 exist ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:atypical hemolytic-uremic syndrome shows onset in first 12 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:aura may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:aura may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autoimmune manifestations are present in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autoimmune manifestations are present in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autonomic dysfunction usually precedes obvious neurologic deterioration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autonomic symptoms occur with headaches ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autonomic symptoms occur with headaches | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant and autosomal recessive forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant and autosomal recessive forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant inheritance has been rarely reported (187800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant inheritance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant inheritance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant inheritance has been reported in a single family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant omodysplasia has also been described (164745) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant transmission has been rarely reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant transmission has been rarely reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant with complete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant with complete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal dominant with incomplete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal dominant with incomplete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive and dominant pedigrees described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive and dominant pedigrees described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cases have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cases have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cases tend to have a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cytochrome b-negative cgd (233690) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cytochrome b-positive cgd, type i ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cytochrome b-positive cgd, type i (233700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cytochrome b-positive cgd, type ii ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive cytochrome b-positive cgd, type ii (233710) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive form (240220) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive form (240220) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance (245600) has also been suggested ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance can occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance can occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has also been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has also been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been described in 2 families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been reported (see 601253.0010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been reported in 1 case ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been reported in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance has been suggested ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance has been suggested | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance in one family (see 603342.0010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive inheritance with earlier onset has been suggested ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:autosomal recessive omodysplasia has also been described (258315) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at death is 37 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at death is 37 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 16.6 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 16.6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 18 years (range 15 to 25 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 18.6 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 18.6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 19 years (range 5 to 38) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 19 years (range 5 to 38) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 31 years (range 7 to 54) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 31 years (range 7 to 54) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 38 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 38 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset 66 years although earlier onset may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset 66 years although earlier onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age at onset is 24 years (range 4 to 58 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age of onset 13 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age of onset 13 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age of onset 15 years (range 4 to 40) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age of onset 15 years (range 4 to 40) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age of onset 57 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age of onset 57 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average age of onset 6 months (range birth - 2 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average duration of illness 8 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average duration of illness 8 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:average onset 6 months (range 3-9) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:average onset 6 months (range 3-9) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:axial skeleton most commonly affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:axial skeleton most commonly affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:basal cell neoplasms develop after second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:basal cell neoplasms develop after second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 4-generation chinese family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 4-generation chinese family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 5-generation family (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 family (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 family (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 large swiss german kindred (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 large swiss german kindred (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 report of monozygotic twins (last curated may 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 reported family (last curated december 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 reported family (last curated december 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 reported family with oca6 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 reported family with oca6 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 reported patient (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 reported patient (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 1 uruguayan family (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 13 patients in one family (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 13 patients in one family (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 cousins in a consanguineous family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 cousins in a consanguineous family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 men from 2 unrelated consanguineous iranian families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 men from 2 unrelated consanguineous iranian families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 patients with p4hb mutations (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 patients with p4hb mutations (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 reported patients (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 reported patients (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 reports of 3 patients (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 siblings in 1 family (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 siblings in a consanguineous family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 siblings in a consanguineous family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 2 unrelated chinese families (last curated july 2014). ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 3 patients from 2 families (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 4 patients in one family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 4 patients in one family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on a report of 2 affected male cousins (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a report of 2 affected male cousins (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on a report of 2 monozygotic twin girls (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on a report of 2 unrelated saudi patients (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on a report of one dutch family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on a report of one dutch family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on description of 1 family (last curated april 2006) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on description of 1 family (last curated april 2006) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on detailed clinical description of 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on detailed clinical description of 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on four patients in a four generation family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on four patients in a four generation family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one 4-generation german family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one 4-generation german family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one 4-generation italian family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one 4-generation italian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one consanguineous palestinian family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one consanguineous palestinian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one finnish family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one finnish family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one italian family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one italian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one large north american family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one large north american family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one pakistani family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one pakistani family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one patient (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one patient (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one report of 3 consanguineous pakistani families (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one report of 4 unrelated sporadic patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one report of 4 unrelated sporadic patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one report of a 4-generation family with 4 affected males and 6 affected females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on one report of brother and sister ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on one report of brother and sister | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 3-generation family (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 consanguineous pakistani family (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 consanguineous turkish family (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family of german ancestry (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family of german ancestry (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 family with 7 affected members ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 family with 7 affected members | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 japanese family (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 large 6-generation family (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 large 6-generation family (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 large dutch pedigree (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 large dutch pedigree (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 saudi arabian family (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 affected brothers in 1 family (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 affected sisters (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 affected sisters (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 consanguineous arab families (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 consanguineous pakistani families (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 families (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 families (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 probands (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 probands (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 siblings and 1 patient (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 sisters (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 turkish sisters (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 turkish sisters (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 unrelated girls (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 unrelated girls (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 unrelated japanese girls (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 unrelated japanese girls (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 unrelated patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 unrelated patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 unrelated patients (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 unrelated patients (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 2 unrelated patients (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 2 unrelated patients (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 3 patients from 2 families (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 3 patients from 2 families (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 3 unrelated children (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 3 unrelated children (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 3 unrelated patients (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 3 unrelated patients (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 4 unrelated patients (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 4 unrelated patients (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of a chinese father and son (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of a chinese father and son (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of a hispanic mother and son (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of a hispanic mother and son (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of one 5-generation family (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of one 5-generation family (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of one consanguineous kuwaiti family (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of one indian family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of one indian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on report of one polish roma patient (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on reports of one family and one patient (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on reports of one family and one patient (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on the report of 1 consanguineous arab family (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on the report of 1 consanguineous arab family (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on the report of 1 japanese family (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on the report of 1 japanese family (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on the report of one consanguineous pakistani family (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on the report of one consanguineous pakistani family (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:based on the report of one lebanese family (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:because fetal chrng (100730) exhibits phenotypic rescue ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:because fetal chrng (100730) exhibits phenotypic rescue | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:begins as focal dystonia, later becomes segmental or generalized ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:begins in feet and legs (peroneal distribution) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:begins in feet and legs (peroneal distribution) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:begins in hands or feet, later generalized ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:begins in hands or feet, later generalized | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:behavioral problems including stubbornness and rage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:behavioral problems including stubbornness and rage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:benign condition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:benign condition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:benign trait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:benign trait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:benign, asymptomatic defect ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:benign, asymptomatic defect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:between 2 and 7% of children will develop afebrile seizure disorders later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bilateral involvement in 10% of cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bilateral involvement in 10% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bimodal age of onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bimodal age of onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:birth date:time stamp -- date and time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:birth incidence approximately 5.1 per million live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:birth incidence approximately 5.1 per million live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:birth rate of 7.6 per 1,000,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:birth rate of 7.6 per 1,000,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bleeding after trauma or surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bleeding after trauma or surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bleeding episodes occur early in life and may disappear with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blindness episodes are not associated with fhm episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blindness episodes are not associated with fhm episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blistering and erosions tend to occur on extensor surfaces or over bony prominences ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blistering becomes confined to the palms and soles with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blistering becomes confined to the palms and soles with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blistering frequency may decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blistering frequency may decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blistering may worsen during the summer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blistering may worsen during the summer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blistering tends to improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blistering tends to improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blood glucose monitor with integrated lancing/blood sample ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:blood glucose monitor with integrated voice synthesizer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:body habitus becomes apparent in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:body habitus becomes apparent in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bone abnormalities improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bone abnormalities improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bone anomalies may be seen on prenatal ultrasound (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bone changes tend to develop after first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bone changes tend to develop after first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bone fragility is not apparent at birth, but becomes evident within several months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bone fragility is not apparent at birth, but becomes evident within several months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both autosomal dominant and autosomal recessive inheritance have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both autosomal dominant and recessive inheritance can occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both autosomal dominant and recessive inheritance can occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both demyelinating and axonal features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both demyelinating and axonal features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both heterozygous and homozygous mutations have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both heterozygous and homozygous mutations have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both heterozygous and homozygous pax3 mutations have been found ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both homozygous and heterozygous edn3 mutations have been found ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both homozygous and heterozygous ednrb mutations have been found ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both homozygous and heterozygous mutations in lrsam1 have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both recessive and dominant inheritance have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both recessive and dominant inheritance have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:both reported cases survived beyond infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:both reported cases survived beyond infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:brain anomalies variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:brain anomalies variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:brain mri abnormalities show improvement with time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:brain mri abnormalities show improvement with time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:breech position ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:breech position | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:breech presentation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:breech presentation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:broad range in severity of presentation in sibships ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:broad range in severity of presentation in sibships | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:broad-based gait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:broad-based gait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:bullae are located randomly in familial cases and apical in sporadic cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:c10orf2 mutations account for approximately 35% of all peo cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be categorized into 3 groups ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be categorized into 3 groups | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be effectively treated with n-carbamylglutamate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be effectively treated with n-carbamylglutamate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be slowly or rapidly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be slowly or rapidly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be treated by bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be treated by bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cancer onset usually in mid-adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cancer onset usually in mid-adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:candidiasis is restricted to nails of hands and feet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:candidiasis is restricted to nails of hands and feet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:candidiasis is usually the first symptom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:candidiasis is usually the first symptom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:capillary malformation are apparent at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:capillary malformation are apparent at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carcinomas tend to develop in mid or late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carcinomas tend to develop in mid or late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac and pulmonary dysfunction normalize in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac and pulmonary dysfunction normalize in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac arrest and sudden death may occur, even in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac failure at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac failure at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac features are observed in ~3% of cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac features are observed in ~3% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac involvement occurs between 5 and 12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiac manifestations are often fatal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiac manifestations are often fatal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cardiomyopathy may develop later in the disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cardiomyopathy may develop later in the disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carnitine supplementation can prevent further episodes and declines in cardiac function ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females are normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females are normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females are unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females are unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females have arthralgias in middle age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females have arthralgias in middle age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may have mild features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may have mild features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may present with postpartum hyperammonemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may present with postpartum hyperammonemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may show mild mental retardation or learning disabilities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females may show neuropsychologic impairment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females may show neuropsychologic impairment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier females show no clinical phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier females show no clinical phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier frequency 1:1,000 in french-canadians in quebec ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier frequency 1:200,000 in france ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier frequency 1:200,000 in france | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier frequency 1:700 in bukhara jewish populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier frequency in finland 1/40 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier frequency in finland 1/40 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier frequency in finland is 1 in 230 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier frequency in finland is 1 in 230 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier males are fertile ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier males are fertile | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier males are unaffected except for psychiatric/behavioral abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier mothers have urine biochemistry profiles identical to those of their sons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier rate of 1 in 11 among old order amish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier rate of 1 in 11 among old order amish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cases reported in the old order amish and one japanese family (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataract evident at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataract evident at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataracts are progressive but may vary between eyes of an individual ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataracts develop by second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataracts develop by second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataracts may be subclinical in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataracts may be subclinical in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataracts present at birth or develop in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataracts present at birth or develop in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cataracts variably present at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cataracts variably present at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cause of death usually due to respiratory failure before adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by a defect in bile acid transport ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by a defect in bile acid transport | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by constitutive activation of the avpr2 receptor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by heterozygous germline mutation and second-hit somatic mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by inborn error in bile acid synthesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by inborn error in bile acid synthesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by inheritance of the mutation on the maternal allele (imprinting) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by paternally-inherited inactivating gnas1 mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:caused by somatic mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:caused by somatic mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cells of origin are part of the diffuse neuroendocrine system (dnes) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:central apneic episodes may be fatal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:central apneic episodes may be fatal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:central hypoventilation occurs late in the disease and is often fatal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cerebellar ataxia shows onset in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:changes more marked in hands than feet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:changes more marked in hands than feet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:characteristic face and body by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:characteristic face and body by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:characteristic facial features become more apparent with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:characteristic facial features become more apparent with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:characterized by calf weakness at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:characterized by calf weakness at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cheerful disposition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cheerful disposition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chelation therapy can result in clinical improvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chelation therapy can result in clinical improvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset (average 4 to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset (average 4 to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset (range birth to 12 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset (range birth to 12 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset has been reported in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset has been reported in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood onset rarely occurs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood onset rarely occurs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood or adolescent onset, protracted, with myopathy and neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:childhood or young adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:childhood or young adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:children rarely develop the disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:children rarely develop the disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cholinesterase inhibitors may be beneficial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cholinesterase inhibitors may be beneficial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chromosomal hypersensitivity to ionizing radiation and alkylating agents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chromosome rearrangements have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chromosome rearrangements have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chronic disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chronic disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:chronic, relapsing condition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:chronic, relapsing condition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:citation:bib:pt:reference lab test:nar ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:citation:bib:pt:reference lab test:nar | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:classical form (type i), less severe with survival into adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:classical form (type i), less severe with survival into adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical and biochemical abnormalities improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical and biochemical abnormalities improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical and pathologic features of both demyelinating and axonal cmt ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical features based on 1 reported family (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical features may vary ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical features may vary | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical features other than liver findings may vary ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical features other than liver findings may vary | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical features present only if mutation inherited on paternal allele ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical features present only if mutation inherited on paternal allele | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical improvement after 2 to 3 weeks of supportive care ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical onset within first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical onset within first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with charcot-marie-tooth disease type 2c (606071) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with dejerine-sottas syndrome (dss, 145900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical presentation varies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical presentation varies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical severity varies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical severity varies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical variability seen in waardenburg syndrome type 1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinical variation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinical variation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinically 'silent' nystagmus evident on eye movement recording in carrier females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinically classified into classic, atypical, and intermediate phenotypes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinically mimics congenital torch infections (see 251290) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clinically unaffected heterozygotes may show changes on electroretinography ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clonazepam and diazepam may be effective in preventing or lessening severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clonidine can alleviate hyperhidrosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clonidine can alleviate hyperhidrosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:clubfoot is bilateral in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:clubfoot is bilateral in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:codominant inheritance has been suggested ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:codominant inheritance has been suggested | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:colchicine treatment is not effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:colchicine treatment is not effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cold temeratures exacerbate symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cold temeratures exacerbate symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cold-induced sweating develops late in the first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cold-induced sweating develops late in the first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:colorectal cancer develops by fourth decade in untreated patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:common (up to 7% of the population) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:common (up to 7% of the population) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:common in afrikaan population, south africa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:common in afrikaan population, south africa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:common in japan and other asian populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:common in japan and other asian populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:common in south african whites ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:common in south african whites | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:communication board, non-electronic augmentative or alternative communication device ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complementation group b (represented by single atypical patient) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complementation group b (represented by single atypical patient) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complementation group c (variant mliii, 252605) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complementation group c (variant mliii, 252605) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complementation groups - complementation group a (classic mliii, 252600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete absence of melanin synthesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete absence of melanin synthesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete manifestation in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete manifestation in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete penetrance but extreme variability of phenotypic expression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete penetrance with variable expressivity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete penetrance with variable expressivity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete recovery during intervals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete recovery during intervals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complete recovery upon treatment of hyperthyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:complicated and pure forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:complicated and pure forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:comprises several subtypes, including ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:comprises several subtypes, including | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:condition is experienced by patients as harmless and is often discovered incidentally ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:conduction defect is progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:conduction defect is progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cone-shaped epiphyses usually not present before age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital - over 2,000 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital - over 2,000 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital abnormality ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital abnormality | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital disorders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital disorders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital linear skin defects may disappear within a few months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital linear skin defects may disappear within a few months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital onset or onset before 2 years (prelingual) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital or early onset hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital or early onset hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:congenital reduction in visual acuity is nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital reduction in visual acuity is nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:connatal form (type ii), most severe with death in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:connatal form (type ii), most severe with death in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered a benign disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered a benign disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered a myeloproliferative disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered a myeloproliferative disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered a normal variant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered a normal variant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered to be a manifestation of the caudal regression syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered to be a severe form of gaucher disease type ii (230900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered to be a variant of gaucher disease type iii (231000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene deletion syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene deletion syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene deletion syndrome (in most patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene deletion syndrome at chromosome 6p ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene deletion syndrome of 5q31 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene duplication syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene duplication syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contiguous gene syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contiguous gene syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:continuing ovulation and implantation after initiation of another pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:continuing ovulation and implantation after initiation of another pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contractures at birth or difficulties in the neonatal period resolve ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contractures at birth or difficulties in the neonatal period resolve | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:contractures most severe by midadolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:contractures most severe by midadolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:corneal diameter decreases with decreasing axial length ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:corneal diameter decreases with decreasing axial length | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:corneal steepening is proportional to the degree of axial foreshortening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:coronary artery disease or myocardial infarction in fifth or sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:corrected by bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:corrected by bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:crisis precipitated by high altitude exposure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:crisis precipitated by high altitude exposure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cutaneous leiomyomas increase in number over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cutaneous leiomyomas increase in number over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:cyp2d6 represents about 1% of total liver cytochrome p450 content ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:d-hus is usually familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:d-hus is usually familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:date of analysis:tmstp:pt:xxx:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:date of autopsy:date:pt:^patient:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:date of autopsy:date:pt:^patient:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:date ultrasound:date:pt:^patient:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:date ultrasound:date:pt:^patient:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo deletions in 8% of patients (preferentially paternally derived) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation identified in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation identified in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation in heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation in heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation in some cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation in some cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:de novo mutations occur almost exclusively on the paternally derived x chromosome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deafness is presenting symptom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deafness is presenting symptom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death about 20 years after symptom onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death about 20 years after symptom onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death at 10 to 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death at 10 to 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death at 13 to 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death at 13 to 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death at 20 to 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death at 20 to 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death at birth or within first 2 years of life (severe form) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death at birth or within first 2 years of life (severe form) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death before age 15 in iia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death before age 15 in iia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death before age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death before age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death between 2 years of age and young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death between 2 years of age and young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death by age 15 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death by age 15 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death by age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death by age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death by age 5 (infantile form) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death by age 5 (infantile form) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death by age 6-7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death by age 6-7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death can occur in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death can occur in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death due to respiratory failure or infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death due to respiratory failure or infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death due to respiratory insufficiency within minutes to hours after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death frequent in severe infantile form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death frequent in severe infantile form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death from stroke if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death from stroke if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood is frequent due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood is frequent due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood may occur due to end-stage renal disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood may occur due to end-stage renal disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood may occur due to infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood may occur due to infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood occurs without bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood occurs without bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood often results from respiratory insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood often results from respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in childhood secondary to malabsorption ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in childhood secondary to malabsorption | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in early childhood has been reported in some presumed homozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in early childhood may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in early childhood may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in early infancy (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in early infancy (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in first days of life (family b) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in first days of life (family b) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in first days or months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in first days or months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in first weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in first weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in first-second decade of life secondary to cardio-respiratory compromise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy (1 patient) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy (1 patient) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy (patient b) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy (patient b) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy common for patients with the classic neonatal form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy common for patients with the classic neonatal form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy due to hyperthermia or apnea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy due to hyperthermia or apnea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy in majority of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy in majority of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy secondary to kernicterus ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy secondary to kernicterus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy secondary to pulmonary insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy without bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy without bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in infancy, usually from sepsis, dehydration, or acidosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in teens secondary to cardiac failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in teens secondary to cardiac failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in the fifth or sixth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in the fifth or sixth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in the first decade, usually from liver failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in the first decade, usually from liver failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in the first months or years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in the first months or years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in the first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in the first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in the mid-twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in the mid-twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in untreated children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in untreated children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero (30%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero (30%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero or as neonate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero or as neonate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero or early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero or early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero or in early infancy is common ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero or in early infancy is common | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death in utero or in the perinatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death in utero or in the perinatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death may occur in childhood due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death may occur in childhood due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death may occur in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death may occur in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death may occur in late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death may occur in late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death may occur in the first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death may occur in the first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death occurs 10 to 20 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death occurs 10 to 20 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death occurs 5 to 10 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death occurs 5 to 10 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death occurs before 12 months of age due to cardiorespiratory arrest ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death occurs early in neonatal period due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death occurs early in neonatal period due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death occurs in second or third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death occurs in second or third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often before age 2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often before age 2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often in the teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often in the teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often occurs during metabolic/acidotic crisis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often occurs during metabolic/acidotic crisis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often occurs in the first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often occurs in the first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often secondary to infectious disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often secondary to infectious disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death often secondary to pneumonia or congestive heart failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death secondary to respiratory infection or failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death secondary to respiratory infection or failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death secondary to respiratory insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death secondary to respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually by 1 year of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually by 1 year of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually by age 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually by age 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually by age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually by age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually due to renal failure by average age 3 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually due to renal failure by average age 3 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in infancy due to respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in infancy due to respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in sixth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in sixth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in the first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in the first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually in the perinatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually in the perinatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs before 5th decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs before 5th decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs by 12 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs by 12 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs in first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs in first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs in infancy or childhood if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs in infancy or childhood if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually occurs in the first weeks to months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually occurs in the first weeks to months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually within first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually within first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually within first weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually within first weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death usually within first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death usually within first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within 12 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within 12 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within 3 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within 3 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within 6 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within 6 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within first months or years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within first months or years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within first year of life in 25% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within first year of life in 25% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:death within several months if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:death within several months if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decrease in frequency and severity of episodes in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decrease in frequency and severity of episodes in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decrease in seizure frequency in middle age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decrease in seizure frequency in middle age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decreased bilirubin concentration with phenobarbital administration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decreased fertility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decreased fertility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decreased life expectancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decreased life expectancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:decreased penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:decreased penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:defect in tetrahydrobiopterin (bh4) synthesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:delayed psychomotor development apparent in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:delayed psychomotor development apparent in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:delayed separation of umbilical cord ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:delayed separation of umbilical cord | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deletion sizes range from 287kb to 4.4mb ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deletions in naip gene (600355) found in 18% of sma2 patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deletions in naip gene (600355) found in 18% of smaii patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:deletions occur de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:deletions occur de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:delta-f508 present in 70% of alleles ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:delta-f508 present in 70% of alleles | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dermatitis resolves in offspring after zinc supplementation and/or weaning ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in 3 unrelated infants (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in 6 japanese families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in 6 japanese families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in families from galicia, spain ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in families from galicia, spain | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in families from western japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in families from western japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in individuals of jewish bukharian descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in individuals of jewish bukharian descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in individuals of roma gypsy origin (founder mutation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in one 5-generation pakistani family (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described in single afrikaner family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described in single afrikaner family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:described predominantly in families from the philippines ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:described predominantly in families from the philippines | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:despite voluminous steatorrhea, patients' growth and overall state of health is good ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:detected in 1/50,000 in neonatal screening programs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:development of afebrile seizures later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:development of afebrile seizures later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diabetes and anemia respond to high doses of thiamine supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diabetes diagnosed in second or third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diabetes diagnosed in second or third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diabetes mellitus develops in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diabetes mellitus develops in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diabetes mellitus diagnosed between third and fifth decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diabetes mellitus diagnosed between third and fifth decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diabetes status:prid:pt:^patient:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diabetes status:prid:pt:^patient:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosed in second or third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosed in second or third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis in seventh decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis in seventh decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis in the second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis in the second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis made if 3/7 defects are present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis made if 3/7 defects are present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis occurs between 23 and 33 weeks' gestation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis rarely made before the fourth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis rarely made before the fourth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diagnosis typically between age 10-20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diagnosis typically between age 10-20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diarrhea persists even with vigorous nursing ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diarrhea persists even with vigorous nursing | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:die at birth or shortly after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:die at birth or shortly after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:difficulty walking ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:difficulty walking | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dip is a pathologic diagnosis that may represent other disease entities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disability by end of first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disability by end of first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease complicated by recurrent sepsis in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease complicated by recurrent sepsis in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease course depends on age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease course depends on age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease exacerbation during summer due to heat ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease exacerbation during summer due to heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease is life-threatening if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease is life-threatening if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease is nonprogressive in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease is nonprogressive in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease steadily progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease steadily progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease usually progresses in a cephalocaudal direction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease usually progresses in a cephalocaudal direction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disorder becomes apparent around age 2 years when patients begin to walk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disorder becomes apparent around age 2 years when patients begin to walk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disorder may progress to involve a larger body area ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disorder may progress to involve a larger body area | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disorder usually remains stable over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disorder usually remains stable over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:disproportionately short limbs often noted at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:disproportionately short limbs often noted at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from autosomal dominant hyper ige syndrome (147060) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from familial erythrocytosis (ecyt1, 133100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from familial limb-girdle myasthenia (254200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from galactosemia (230400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from galactosemia (230400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from myasthenia gravis (mg, 254200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from parkinson disease (168600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from parkinson disease (168600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from reduced zinc in breast milk (608118) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinct from pili annulati (180600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinct from pili annulati (180600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinctive and stereotyped sequence of events ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinctive and stereotyped sequence of events | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:distribution of lesions may be generalized, palmoplantar, or acral ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diurnal fluctuation of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diurnal fluctuation of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:diurnal fluctuation, more apparent in earlier years, later subsides ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:does not lead to hepatic failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:does not lead to hepatic failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:does not result in renal failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:does not result in renal failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dopa-responsive rigidity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dopa-responsive rigidity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dopa-unresponsive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dopa-unresponsive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dramatic improvement with proper treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dramatic improvement with proper treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dramatic late catch-up growth occurs in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dryness and impaired vision in older adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dryness and impaired vision in older adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:duane anomaly is not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:duane anomaly is not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:due to lack of epidermal ridging, patients lack fingerprints ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysarthria, dysphonia, or cough precede onset of ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dyskinesia may be precipitated by alcohol, stress, or fatigue ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dyskinesia may occur in homozygotes (1 reported case) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic facial features are subtle ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic facial features are subtle | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic facial features are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic facial features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic facial features may not be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic facial features may not be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic facial features reported in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic facial features reported in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic features are mild or variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic features are mild or variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic features are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic features may be subtle ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic features may be subtle | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dysmorphic features were only reported in 1 patient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dysmorphic features were only reported in 1 patient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dystonia and seizures may persist after resolution of episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dystonia is usually focal or segmental ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dystonia is usually focal or segmental | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:dystonia occurs later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:dystonia occurs later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earlier onset associated with faster progression and shorter life span ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset associated with faster progression and shorter life span | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earlier onset associated with increased severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset associated with increased severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earlier onset is associated with more aggressive disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset is associated with more aggressive disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earlier onset is rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset is rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earlier onset may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earlier onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earliest age of onset 12 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earliest age of onset 12 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:earliest symptom onset in sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:earliest symptom onset in sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early age of onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early age of onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early age of onset (approximately 45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early age of onset (approximately 45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early age of onset, usually less than 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early age of onset, usually less than 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early childhood lethality may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early childhood lethality may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early childhood onset (before age 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early childhood onset (before age 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death (mean age 13 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death (mean age 13 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death due to infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death due to infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death from infection may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death from infection may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death from respiratory failure may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death from respiratory failure may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death in early adulthood often associated with diverticulitis and intestinal perforation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death in patients with cloverleaf skull ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death in patients with cloverleaf skull | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death in some patients due to cardiorespiratory involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death in the first few weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death in the first few weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death may occur due to infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death may occur due to infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death may occur from cardiogenic shock preceded by arrhythmia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death may occur from cardiogenic shock preceded by arrhythmia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death may occur without bone marrow transplant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death may occur without bone marrow transplant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death often due to respiratory complications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death often due to respiratory complications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death often occurs from cardiac failure or infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death often occurs from cardiac failure or infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death without bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death without bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death without kidney transplant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death without kidney transplant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early death, usually before age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early death, usually before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early diagnosis and treatment prevent many complications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early diagnosis and treatment prevent many complications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early exhaustion on exertion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early exhaustion on exertion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early lethality ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early lethality | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early lethality in most cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early lethality in most cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset (1 month to 4 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset (1 month to 4 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset (average 1 year) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset (average 1 year) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset has rarely been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset has rarely been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early onset, between 35-60 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early onset, between 35-60 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early treatment can reduce neurologic symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early treatment can reduce neurologic symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early-onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early-onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early-onset associated with more severe course and early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early-onset associated with more severe course and early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:early-onset severe renal disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:early-onset severe renal disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:echocardiogram and ophthalmologic examination normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:echocardiogram and ophthalmologic examination normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:eight patients from 2 unrelated families have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:eight unrelated patients have been reported (as of september 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:electrolyte imbalances can mimic renal bartter syndrome (601678) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:electroretinogram reduction as early as 4 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:electroretinogram reduction as early as 4 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:elevated afp can be seen in other disorders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:elevated afp can be seen in other disorders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:empiric risk for a sib of an affected child between 2 and 5% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:encephalopathic episodes associated with increased serum and csf lactate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:end-stage renal failure in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:end-stage renal failure in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:end-stage renal failure in first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:end-stage renal failure in first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:endocrine abnormalities confined to kidney ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:endocrine abnormalities confined to kidney | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:endocrine and neurologic defects may become apparent later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:endocrine and neurologic defects may become apparent later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:endocrine defects evolve over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:endocrine defects evolve over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:enterocolitis tends to remit with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:enterocolitis tends to remit with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:environmental triggers - cold and wet exposure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:environmental triggers - cold and wet exposure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:epilepsy with grand mal seizures on awakening (egma, 607628) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:epiphyseal stippling is gone by 8 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episode, syncopal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episode, syncopal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes are followed by exhaustion and sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes are followed by exhaustion and sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes are triggered by cold exposure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes are triggered by cold exposure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes are triggered by fatigue, illness, or strenuous exercise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes are triggered by hunger, fatigue, cold, stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes brought on by fasting or infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes brought on by fasting or infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes last 1 to 2 days ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes last 1 to 2 days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes last 2 days to 1 week ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes last 2 days to 1 week | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes last about 1.5 hours ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes last about 1.5 hours | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes not triggered by alcohol, caffeine, or stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes of fatigue or weakness (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes of fatigue or weakness (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes tend to decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes tend to decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes triggered by fasting, illness, fever ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes triggered by fasting, illness, fever | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes typically last 2 to 5 minutes and occur daily or several times per month ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodes usually last 1 to 2 days ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodes usually last 1 to 2 days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodic decompensation is usually triggered by illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodic decompensation is usually triggered by illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:episodic metabolic decompensation usually associated with illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:episodic metabolic decompensation usually associated with illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:erythema accompanied by stinging or burning sensation in some cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:erythema accompanied by stinging or burning sensation in some cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:erythema often triggered by sudden temperature change or emotional stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated carrier frequency 1/100 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated carrier frequency 1/100 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated carrier frequency in charlevoix-saguenay region is 1/22 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated frequency 1.6 cases/10,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated frequency of 1 in 40,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated frequency of 1 in 40,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated gene carrier frequency of 1 in 5,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated incidence 1/20,000 - 1/40,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated incidence of 1 in 17,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated incidence of 1 in 17,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated mutation carrier rate of 1 in 350 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated population frequency of 1 in 13,000-20,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated population frequency of 1 in 13,000-20,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated prevalence of 1 in 16,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated prevalence of 1 in 16,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:evidence of incomplete penetrance in one family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:evidence of incomplete penetrance in one family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:evidence of prenatal fractures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:evidence of prenatal fractures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:evidence of systemic iron overload seen in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:evidence of systemic iron overload seen in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbation at puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbation at puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbation during febrile episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbation during febrile episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbation following stress, decreased food intake, or alcohol use ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbation of symptoms during or after pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbation of symptoms during or after pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbation or regression during viral infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbation or regression during viral infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exacerbations during infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exacerbations during infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:excessive posttraumatic blood loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:excessive posttraumatic blood loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exercise intolerance often evident in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exercise intolerance often evident in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:existence as a distinct entity is not confirmed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:existence as a distinct entity is not confirmed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:exon 7 of smn1 is absent in 95.6% of sma1 patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:expression more severe in females than males, except for mosaic males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:expression more severe in females than males, except for mosaic males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extracutaneous manifestations are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extracutaneous manifestations are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extreme clinical heterogeneity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extreme clinical heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extreme phenotypic variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extreme phenotypic variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extreme sensitivity to chemotherapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extreme sensitivity to chemotherapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extreme variability in severity of features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extreme variability in severity of features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:extremely variable phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:extremely variable phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:eye and vestibular findings were found in some members of one family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:eye and vestibular findings were found in some members of one family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:f syndrome (102510) has many overlapping features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:f syndrome (102510) has many overlapping features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:facial appearance becomes more apparent with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:facial appearance becomes more apparent with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:facial dysmorphic features may not be present and may become less apparent in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:facial dysmorphism is age-related and alters substantially over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial (10%) and isolated cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial (10%) and isolated cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial cases are rare and show incomplete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial cases are rare and show incomplete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial form - constitutional deficiency of vwf-cleaving protease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:families a and b had a more severe phenotype resulting in death in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:families a and b had a more severe phenotype resulting in death in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:family b had a milder phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:family b had a milder phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:family c had a milder phenotype with survival into adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:family c had a milder phenotype with survival into adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:family history of sudden death, as early as fourth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:family history of sudden death, as early as fourth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fasting status:prthr:pt:^patient:ord:reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fasting status:prthr:pt:^patient:ord:reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fat pads become less prominent with time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fat pads become less prominent with time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal if renal transplant is not performed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal if renal transplant is not performed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal in first few months of life in most cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal in first few months of life in most cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal in the neonatal period (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal in the neonatal period (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal multiorgan failure due to severe inflammatory response in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal outcome if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal outcome if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal without bone marrow transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal without bone marrow transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal without hematopoietic stem cell transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal without hematopoietic stem cell transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatal without lung transplant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatal without lung transplant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fatigue ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fatigue | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable initial response to l-dopa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable initial response to l-dopa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response of episodic attacks to acetazolamide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response of episodic attacks to acetazolamide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response of seizures to a ketogenic diet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response of seizures to a ketogenic diet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to a ketogenic diet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to a ketogenic diet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to acetylcholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to alcohol in about 50% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to alcohol in about 50% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to antibodies against tnf-alpha (tnfa, 191160) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to anticholinesterase medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to anticholinesterase medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to anticonvulsants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to anticonvulsants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to antiepileptic medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to antiepileptic medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to bh4 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to bh4 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to bh4 therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to bh4 therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to cholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to cholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to clonazepam ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to clonazepam | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to corticosteroid treatment (1 family) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to flunarizine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to flunarizine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to high-dose steroids ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to high-dose steroids | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to hydroxychloroquine treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to hydroxychloroquine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to immunotherapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to immunotherapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to intermittent, low-dose steroid therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to l-dopa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to l-dopa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to l-dopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to l-dopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to l-dopa without side effects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to l-dopa without side effects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to lenalidomide treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to lenalidomide treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to oral bile acid therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to oral bile acid therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to oral creatine treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to oral creatine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to rituxan (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to rituxan (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to sodium chloride treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to sodium chloride treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to spironolactone ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to spironolactone | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to treatment with cholinesterase inhibitors or amifampridine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to treatment with coenzyme q10 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to treatment with coenzyme q10 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to treatment with minocycline or azithromycin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to treatment with riboflavin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to treatment with riboflavin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favorable response to ursodeoxycholic acid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:favoring of fat and protein ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:favoring of fat and protein | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features are highly variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features are highly variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features in addition to mental retardation are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features in addition to mental retardation are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features intermediate between demyelinating cmt and axonal cmt ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features may be bilateral (15/24) or left side (9/24) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features occur episodically ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features occur episodically | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:features usually appear during adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:features usually appear during adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:febrile attacks disappear in adulthood in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:febrile attacks disappear in adulthood in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:febrile seizures remit by age 5 or 6 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:febrile seizures remit by age 5 or 6 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:febrile seizures show onset between 6 months and 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:feeding difficulties in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:feeding difficulties in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:feeding difficulties, including aspiration, ameliorate with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:feet are unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:feet are unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:feet are unaffected in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:feet are unaffected in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers are unaffected or show neuropsychiatric features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers exhibit short stature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers exhibit short stature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers experience significant clinical manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers experience significant clinical manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may be less severely affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may be less severely affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may develop mild hearing loss as adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may develop mild hearing loss as adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have asymptomatic proteinuria or hypercalciuria ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have cardiac defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have cardiac defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have hearing loss and/or subclinical peripheral neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have mild hearing impairment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have mild hearing impairment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have mild hearing impairment and/or mild signs of choroideremia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have mild mental retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have mild mental retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have short stature and premature ovarian failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have short stature and premature ovarian failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may have subtle manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may have subtle manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may show mild learning disabilities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may show mild learning disabilities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female carriers may show some manifestations, such as hearing impairment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female mutation carriers are less severely affected than male mutation carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female mutation carriers are less severely affected than male mutation carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female mutation carriers have earlier age at onset compared to male mutation carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female predominance (4:1) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female predominance (4:1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female preponderance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female preponderance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female to male ratio 5:1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female to male ratio 5:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female to male ratio 8-13:1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female to male ratio 8-13:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female to male ratio ranges from 2:1 to 4:1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:female to male ratio, 1:1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:female to male ratio, 1:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females are more often affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females are more often affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females are most often affected, but rare male cases have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females are most often affected, but rare male cases have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females carriers have more variable age at onset and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females carriers have more variable age at onset and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females demonstrate lyonization with corresponding phenotypic variation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females have milder manifestations than males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females have milder manifestations than males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females may be unaffected or mildly affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females may be unaffected or mildly affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females more severely affected than males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females more severely affected than males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:females tend to have earlier onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:females tend to have earlier onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fetal death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fetal death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fetal death may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fetal death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fetal death usually occurs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fetal death usually occurs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fever of unknown origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fever of unknown origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fever, muscle cramping, and poor feeding remit by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:few patients with mild to moderate mental retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:few patients with mild to moderate mental retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fifty percent of cases are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fifty percent of cases are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fifty percent of cases secondary to new mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fifty percent of cases secondary to new mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:figure associated with report or note:-:point in time:^patient:- ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:findings in muscle biopsy may be variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:findings in muscle biopsy may be variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:first described in acadian population of louisiana ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:first described in acadian population of louisiana | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:first described in gypsy group from bulgaria ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:first described in gypsy group from bulgaria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:first identified in individuals of cypriot origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:first identified in individuals of cypriot origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:first name:pn:pt:^guardian or legally authorized representative:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five clinical variants of msud unassociated with genotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five clinical variants of msud unassociated with genotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five patients from 3 unrelated families have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five patients from 3 unrelated families have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five patients have been reported (as of 8/2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five patients have been reported (as of 8/2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five patients have been reported (as of april 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five patients have been reported (as of april 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five patients have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five patients have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five patients reported (as of march 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five patients reported (as of march 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five reported patients, all boys (as of july 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five reported patients, all boys (as of july 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five unrelated cases have been reported (as of march 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five unrelated patients have been reported (as of december 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five unrelated patients have been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five unrelated patients have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five unrelated patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:five unrelated patients have been reported (nov. 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:flares triggered by viral infection, overexertion, stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:flares triggered by viral infection, overexertion, stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:flunarizine treatment may be beneficial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:flunarizine treatment may be beneficial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fluoxetine therapy may be effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fluoxetine therapy may be effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:focal or segmental onset in cranial-cervical area or upper limbs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:following fever in infancy, muscular weakness and poor growth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:food intolerance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:food intolerance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:food related behavioral problems include excessive appetite and obsession with eating ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:foot dragging may appear in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:foot dragging may appear in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:for similar autosomal dominant form, see 162350 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:for similar autosomal dominant form, see 162350 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:for similar autosomal recessive form, see cln4 (204300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:forty percent of patients die in the first year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:forty percent of patients die in the first year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:found predominantly in the amish population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:found predominantly in the amish population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:founder effect in irish traveler population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:founder effect in irish traveler population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:founder effect in turkish families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:founder effect in turkish families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four cases have been reported, all female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four cases have been reported, all female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four clinical forms of krabbe disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four clinical forms of krabbe disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four clinically indistinguishable biochemically distinct forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four families have been reported (last curated june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four families have been reported (last curated june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four families have been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four families have been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four individual patients and 1 saudi family have been reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four major groups: early infantile, late infantile, juvenile, adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 2 unrelated families have been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 families have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 families have been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 families have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 families have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 families have been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 unrelated families have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 unrelated families have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients from 3 unrelated families have been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients have been reported (as of december 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients have been reported (as of december 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients have been reported (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients have been reported (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients have been reported (last curated june 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients have been reported (last curated june 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients have been reported from pakistan (as of march 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four patients reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four patients reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four sibs from the old order mennonite community has been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four types of cgd with basically identical clinical phenotypes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated boys have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated boys have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated families have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated families of caucasian european descent have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fracture frequency constant through childhood, decreases after puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fracture frequency increases after menopause and in men ages 60-80 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fractures occur in first few months, then decrease in frequency and then occur with ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:fractures often heal without deformity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:fractures often heal without deformity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency 1/100,000 - 1/130,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency and severity of seizures tends to decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency and severity of seizures tends to decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency between 1 in 58,000 to 1 in 1,000,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency increases with advancing age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency increases with advancing age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency of attack, monthly - bimonthly ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency of attack, monthly - bimonthly | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency of attacks may decrease with age or during pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequency of episodes ranges from several per week to several per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequency of episodes ranges from several per week to several per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequent falls ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequent falls | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequent neonatal sudden death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequent neonatal sudden death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequently death in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequently death in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequently fatal within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequently fatal within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frequently occurs in navajo children, especially in western reservations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:funduscopy before 2 years of age is unremarkable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:funduscopy before 2 years of age is unremarkable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gait abnormality ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gait abnormality | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gait difficulties and beginning of cognitive decline in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gastrointestinal anomalies are not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gastrointestinal anomalies are not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gei (gene-environment interaction) - association of cardiac events with drug administration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gender-specific phenotype (homozygous men are fertile) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gender-specific phenotype (homozygous men are fertile) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gene frequency in northwest puerto rico 1 in 18 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generalized dystonia in some cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generalized dystonia in some cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generalized fatigue ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generalized fatigue | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generally benign disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generally benign disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generally considered to be a benign disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generally considered to be a benign disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generally mild phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generally mild phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:generally static disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:generally static disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic anticipation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic anticipation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic anticipation associated with progressive telomere shortening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic anticipation has been observed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic anticipation has been observed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic anticipation occurs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic anticipation occurs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (bor2, 610896) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (bor2, 610896) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (ccm2 603284, ccm3 603285) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 125800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 125800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 145410) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 145410) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 157640) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 157640) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 159900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 159900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 161400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 161400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 166600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 166600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 191100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 191100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 192600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 192600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 209850) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 209850) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 213300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 213300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 214300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 214300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 259700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 259700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 266900 for summary) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 304800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 304800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 601680) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 601680) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 604559) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 604559) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 606215) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 606215) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 607634) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 607634) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 608638) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 608638) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 610168) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 610168) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see 613254) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see 613254) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see bafme2, 607876) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see bfic2, 605751) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see bscl1, 608594) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see bscl2, 269700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cftd1, 255310) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cms1a1, 605809) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt1b 118200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt2a 118210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt2b2, 605589) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt4a 214400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt4b1, 601382) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmt4b2, 604563) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cmtdia 606483) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see cnc2, 605244) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see coxpd1, 609060) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see ebn2 121201, ebn3 608217) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see enfl1, 600513) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see etl2, 608096) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see feb1 121210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see feb1 121210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see gefs+, 604233) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see hcfp1, 601471) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see hcfp2, 604185) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see hhf1 256450) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see hht1, 187300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see lgmd1a 159000 for overview) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see lqt1 192500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see mada, 248370) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see mada, 248370) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see madb, 608612) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see madb, 608612) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see mcc2 deficiency 210210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see npc1, 257220) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see npc2, 607625) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see ofc1, 119530) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see pfic1, 211600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see pfm1, 168500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see psnp1 601104) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see psnp2 609454) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see rieg2, 601499) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see rls2, 608831) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see rmd, 606072) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see rmd1, 600332) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see sca1, 164000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., 600795, 105550) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., atfb1, 608583) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., atfb3, 607554) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (sli2 606712, sli3 607134) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity (x-linked form 305100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity of axonal cmt (see cmt2a 118210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity of waardenburg syndrome type 2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see (203300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see (203300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see apmr1 (203650) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see aprm2 (610422) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see cild1 (244400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see ekd1 (128200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see evr1 (133780) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see fhm1 141500 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see lgmd2a (253600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see mgr1 (157300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see ppnad1 (610489) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see ppnad2 (610475) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see sca1 (164400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see spg3a (182600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see spg5a (270800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genetic heterogeneity, some patients not linked to fgfr3 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:genomic duplications occur de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:genomic duplications occur de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:germline and somatic mutations contribute to this disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:germline and somatic mutations contribute to this disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:germline or somatic mutations may cause the disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:germline or somatic mutations may cause the disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gestational age:time:pt:^fetus:qn:amniocentesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:global developmental delay ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:global developmental delay | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:glucocorticoid deficiency occurs in mid-childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gms is goniodysgenesis, mental deficiency, and short stature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gonadal mosaicism may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gonadal mosaicism may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gonadal mosaicism reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gonadal mosaicism reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to clonazepam ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to clonazepam | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to fibrinolytic inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to fibrinolytic inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to gaba-enhancing medications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to gaba-enhancing medications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to immunotherapy (intravenous igg or plasmapheresis) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to l-dopa initially ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to l-dopa initially | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to levodopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to levodopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to phosphate treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to phosphate treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good response to vitamin d treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good response to vitamin d treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:good seizure control with medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:good seizure control with medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gradual progression of hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gradual progression of hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gradual spontaneous improvement in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gradual spontaneous improvement in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:greater expression in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:greater expression in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:green color resolves if cholestasis is treated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:green color resolves if cholestasis is treated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:green jaundice occurs only in the context of liver failure or obstructive cholestasis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:group a patients die in the first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:group a patients die in the first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:group a, found in north american indians, has lactic acidosis and psychomotor retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:group b patients die by 3 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:group b patients die by 3 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:group b, found in france and united kingdom, severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:group c is relatively benign ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:group c is relatively benign | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:growth retardation onset in utero ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:growth retardation onset in utero | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair loss begins in first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair loss begins in first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair may normalize at puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair may normalize at puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair phenotype present at birth and involves entire scalp region ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair tends to straighten by 2nd-3rd decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hair, nails, and teeth are normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hair, nails, and teeth are normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hairy elbows become apparent in infancy and regress during adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:half (50%) of affected patients have a recurrent episode with worse outcome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:half of cases show retarded head circumference equal to height retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hand involvement improves with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hand involvement improves with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:haploinsufficiency of grn (138945) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:haploinsufficiency of grn (138945) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:haploinsufficiency of rps14 (130620) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:haploinsufficiency of rps14 (130620) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:has been described in patients of caucasus jewish origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:has been described in patients of caucasus jewish origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:headache duration 4-72 hours ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:headache duration 4-72 hours | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:headaches last hours to days ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:headaches last hours to days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:health data repository:id:pt:repository:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:health data repository:id:pt:repository:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:health insurance plan benefits comment:finding:point in time:^patient:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing impairment may improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing impairment may improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss affects all frequencies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss affects all frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss and hoarseness occur later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss and hoarseness occur later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss and ocular findings are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss and ocular findings are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is congenital and nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is congenital and nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is pre- or perilingual in onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is pre- or perilingual in onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is progressive and initially affects high-frequencies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is progressive and initially affects high-frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is usually severe by age 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is usually severe by age 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss is variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss is variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss ma be fluctuating or progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss ma be fluctuating or progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss may be stable or progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss may be stable or progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss may vary in severity and range between ears ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss may vary in severity and range between ears | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss progresses to profound deafness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss progresses to profound deafness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss typically begins between 3 and 4 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss was diagnosed between 3 months to 1 year of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss was diagnosed between 3 months to 1 year of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hearing loss was progressive in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hearing loss was progressive in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hematuria may become apparent after respiratory infections (synpharyngitic) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hemolysis may be exercise-induced ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hemolysis may be exercise-induced | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hernia occurs in 22% of adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hernia occurs in 22% of adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterogeneous disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterogeneous disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes are usually asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes are usually asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes exhibit blue sclerae and soft velvety skin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes have half-normal levels of apob-containing lipoproteins ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes have mild, transient hypothyroidism in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygotes may exhibit syndromic manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous carriers have an increased risk of metabolic dysfunction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous carriers have decreased blood pressure compared to the general population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous female carriers may manifest symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous female carriers may manifest symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous females may have gout and/or sensorineural deafness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous mutation carriers may have late-onset cardiac arrhythmias ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous mutation carriers may show mild symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous mutation present in 5-7% of the japanese population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous mutations reported, see 606609.0006 and 606609.0007 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hhs is a more severe variant, often resulting in death in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high disease prevalence among french-canadians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high disease prevalence among french-canadians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high early mortality rate if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high early mortality rate if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency among french-canadians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency among french-canadians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in equatorial africa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in equatorial africa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in finnish population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in finnish population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in hutterite population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in hutterite population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in japan (2 in 20,000, 0.1%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in northeastern brazil ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in northeastern brazil | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in southern india (7% of all epilepsies) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in the french-canadian population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in the french-canadian population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency in tibetan individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency in tibetan individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency of de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency of de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high frequency seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high frequency seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence among ashkenazi jews ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence among ashkenazi jews | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence among old order amish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence among old order amish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence in iraqis and sephardic jewish individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence in sweden and finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence in sweden and finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence of diabetes mellitus noted in opll patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high incidence of e. coli sepsis in untreated neonates ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high infant mortality due to malnutrition as well as complications of parenteral nutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high intrafamilial and interfamilial variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high intrafamilial and interfamilial variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high mortality in infancy and early childhood (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high occurrence of de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high occurrence of de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high pain threshold ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high pain threshold | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence among individuals of middle eastern or african descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence among individuals of portuguese descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence among individuals of portuguese descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence in charlevoix-saguenay region of northeastern quebec ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence in holguin province of cuba ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence in holguin province of cuba | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence in japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence in japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high prevalence in the east asian population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high prevalence in the east asian population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:high risk of death in infancy due to cardiac failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:high risk of death in infancy due to cardiac failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highest incidence in men of european descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highest incidence in men of european descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable age at onset (range 9 to 69 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable age at onset (range childhood to late adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable age at onset (range childhood to late adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable clinical and immunologic phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable clinical and immunologic phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable degree of bone fragility, even among patients carrying the same mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable degree of bone fragility, even among patients carrying the same mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable expressivity within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable expressivity within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable intrafamilial expression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable intrafamilial expression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable intrafamilial severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable intrafamilial severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable pathologic phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable pathologic phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype and age of onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype and age of onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype and severity, even within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype and severity, even within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype with regard to pigmentation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype with regard to pigmentation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype, ranging from asymptomatic to death by age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:highly variable severity of muscle weakness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:highly variable severity of muscle weakness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hip replacement in early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hip replacement in early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:histologic features overlap with henoch-schonlein purpura (hspn) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homo sapiens do not have a functional l-gulonolactone oxidase gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homozygotes have earlier onset and a more severe disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:homozygous patients have earlier-onset and more severe disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyperkeratosis triggered by chronic mechanical irritation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyperlipidemia may be partially responsive to fat-restricted diet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyperpigmented patches increased in size and number with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperpigmented patches increased in size and number with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypertension is presenting sign ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypertension is presenting sign | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypogonadism reported in a large swedish kindred ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypogonadism reported in a large swedish kindred | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hyponatremia usually associated with gastroenteritis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hyponatremia usually associated with gastroenteritis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypotonia may respond to treatment with pyridostigmine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypotonia may respond to treatment with pyridostigmine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:immunodeficiency is progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:immunodeficiency is progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:immunosuppressive therapy may be beneficial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:immunosuppressive therapy may be beneficial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:impaired healing ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:impaired healing | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:imprinting at 11p15.5 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:imprinting at 11p15.5 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:improvement of abnormal muscle biopsy and cox deficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:improvement of epimetaphyseal changes with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:improvement of epimetaphyseal changes with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in most cases capillary lesions are multifocal at birth and may increase in number with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:in some patients, qtc interval is prolonged only during exercise testing ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:inborn error of the pyrimidine degradation pathway ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:inborn error of the pyrimidine degradation pathway | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence - 1 in 25,000-100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence - 1 in 25,000-100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1 in 20,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 20,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1 in 300,000 in japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 300,000 in japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1 in 50,000-100,000 in western europe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1 in 6,000 to 1 in 8,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1/1,200-1/15,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1/1,200-1/15,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 1/20,000-1/64,000 male births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 1/20,000-1/64,000 male births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 2-5% of north american children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 2-5% of north american children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 5-50 per million (children) and 10-40 per million (adults) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence 7-15% in pacific island populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence 7-15% in pacific island populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence approximately 2-3/10,000 newborns ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence approximately 2-3/10,000 newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence in finland is 1 in 76,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence in finland is 1 in 76,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence in japan is 1 in 57,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence in japan is 1 in 57,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence in the finnish population of 0.2-1.3 cases per million per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence in united states of 1 in 55,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence in united states of 1 in 55,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence is less than 1 in 70,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence is less than 1 in 70,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 0.51 per million in france ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 0.51 per million in france | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 1,000,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 1,000,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 10,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 10,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 100 in some local nordic areas ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 100,000 births in caucasians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 150,000 live births in the general population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 20,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 20,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 25,000 livebirths ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 25,000 livebirths | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 25,000 to 1 in 50,000 newborns ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 250,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 250,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 276,000 in the netherlands ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 3,900 births among jewish persons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 300,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 300,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 320,000 births among non-jewish persons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 40,000 infants worldwide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 480 among old order amish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 480 among old order amish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 5,000-8,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 5,000-8,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 500,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 500,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 in 6,000 males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 in 6,000 males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1 per 10,000 births in japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1 per 10,000 births in japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1% in yarmouth county, nova scotia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1/100,000 in italy and finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1/100,000 in italy and finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 1/50,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 1/50,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 12.2 per 100,000 in finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 12.2 per 100,000 in finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of 4 per million per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of 4 per million per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of all forms of cjd is 0.5 to 1.5 per million per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence of mh in anesthetized children is 1 in 15,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence ranges from 1 in 238,095 to 1 in 300,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence ranges from 1 in 8,500 to 1 in 12,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence worldwide of 1 in 30,000 to 50,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incidence, 1 in 650-1000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incidence, 1 in 650-1000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete age-dependent penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete age-dependent penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetance of some features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetance of some features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance (about 80%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance (about 80%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance (as low as 30% in some cases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance (range 13% to 77% by 50 years of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance of the cardiac phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance of the cardiac phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete penetrance, some individuals have only emg changes without other clinical signs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete, age-associated penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete, age-associated penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incomplete, but high, penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incomplete, but high, penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:incompletely penetrant phenotype in heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:incompletely penetrant phenotype in heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased abortuses of homozygous or compound heterozygous fetuses ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased bleeding after surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased bleeding after surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency among individuals of ashkenazi jewish descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency among individuals of ashkenazi jewish descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency among individuals of east asian descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency among individuals of east asian descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency among japanese and chinese ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency among japanese and chinese | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency among jewish iranian individuals from isfahan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in ashkenazi jewish population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in ashkenazi jewish population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in ashkenazi jewish population (1/100 are carriers) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in ashkenazi jewish population and in finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in eastern pennsylvania amish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in eastern pennsylvania amish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in finland (incidence 1:60,000 finnish newborns) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in finland (prevalence of 1 in 20,000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in individuals of asian descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in individuals of asian descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in individuals originating from western scotland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in individuals originating from western scotland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in persian jews (1:1,300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in persian jews (1:1,300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in the dariusleut hutterites (canada) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in the faroe islands (carrier 1 in 25) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in the finnish population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in the finnish population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in the state of bahia, brazil ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in the state of bahia, brazil | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased male-to-female ratio (3-4 to 1) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased morbidity/mortality in affected males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased morbidity/mortality in affected males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased penetrance of phenotype when there is maternal transmission of the mutant allele ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence among smokers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence among smokers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence among the finnish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence among the finnish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence among women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence among women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence in individuals of jewish-iraqi origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence in individuals of turkish descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence in individuals of turkish descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence in northern finland (7.3/100,000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence in persons of ashkenazi jewish descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased prevalence in the french-canadian population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased prevalence in the french-canadian population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased rate of miscarriage in affected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased rate of miscarriage in affected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of bilateral breast cancer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of bilateral breast cancer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of developing early-onset aggressive cancers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of developing early-onset aggressive cancers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of developing multiple primary cancers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of developing multiple primary cancers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of miscarriage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of miscarriage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of post-splenectomy thrombotic complications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of post-splenectomy thrombotic complications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased risk of post-splenectomy thrombotic complications (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased risk of post-splenectomy thrombotic complications (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased sensitivity to heat ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased sensitivity to heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased spontaneous abortions in carrier mothers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased spontaneous abortions in carrier mothers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to malignant hyperthermia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to malignant hyperthermia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to neisseria infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to neisseria infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increased tendency to chromosomal nondisjunction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increased tendency to chromosomal nondisjunction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:increasing hypertension with increasing age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:increasing hypertension with increasing age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:individuals develop ability to stand and walk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:individuals develop ability to stand and walk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:individuals do not develop erythrocytosis under hypoxic conditions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:individuals may accumulate more pigment in hair and eyes with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:individuals with the pcs trait are phenotypically normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:individuals with the pcs trait are phenotypically normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infant death may occur secondary to sepsis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infant death may occur secondary to sepsis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infantile form usually leads to death by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile form usually leads to death by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infantile onset (in 1 patient) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infantile onset (in 1 patient) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infants are stillborn or die before age 1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants are stillborn or die before age 1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infants may die from apnea or aspiration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants may die from apnea or aspiration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infants occasionally mistaken as having down syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infants occasionally mistaken as having down syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:infertility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:infertility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:inheritance may be x-linked dominant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:inheritance may be x-linked dominant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:initially normal for first 6-18 months which is then followed by withdrawal and regression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:initially normal rod responses may become significantly reduced at older age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intellectual disability is variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intellectual disability is variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intelligence is normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intelligence is normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:interfamilial and intrafamilial variability in severity of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:interfamilial and intrafamilial variability in severity of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intermediate levels of factor x in mildly symptomatic heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intermittent pyrexia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intermittent pyrexia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intolerant of heat ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intolerant of heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intracellular accumulation of material may not always be apparent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intracellular accumulation of material may not always be apparent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability in degree of hypotrichosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability in degree of nail involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in degree of nail involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability in nail changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in nail changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability in severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variability in severity of hypothyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrafamilial variation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrafamilial variation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:involuntary and nonvolitional phenomenon ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:involuntary and nonvolitional phenomenon | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:isolated cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:isolated cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:jbts shows autosomal dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:jbts shows autosomal dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:joint dislocations become less frequent with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:joint dislocations become less frequent with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:joint replacement often necessary ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:joint replacement often necessary | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:juvenile absence epilepsy (jae, 607631) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:juvenile and adult forms are isolated glycerol kinase deficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:juvenile myoclonic epilepsy (jme, 606904) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:juvenile-onset (before 15 years of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:juvenile-onset (before 15 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:keratitis-ichthyosis-deafness syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:kid syndrome and hid syndrome are identical at the molecular level ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:l-dopa-induced dyskinesias ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:l-dopa-induced dyskinesias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:laboratory comment:txt:pt:report:nar ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:laboratory comment:txt:pt:report:nar | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:laboratory director name:pn:pt:provider:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:laboratory director name:pn:pt:provider:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:laboratory findings are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:laboratory findings are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:laryngeal edema can result in asphyxiation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:laryngeal edema can result in asphyxiation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:last name:pn:pt:^guardian or legally authorized representative:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:late infantile form has onset between 19 months and 4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:late infantile form has onset between 19 months and 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:late onset combined immunodeficiency with allelic variant 102700.0020 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:late-adult onset (age 50 or later) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset (age 50 or later) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:late-adult onset (range 50 to 80 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset (range 50 to 80 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:late-adult onset (usually after age 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:late-adult onset (usually after age 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later childhood onset has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later childhood onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset associated with milder severity has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset associated with milder severity has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset has been rarely reported (up to age 68 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset has been reported (third or fourth decades) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset has been reported (third or fourth decades) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset in adolescence has rarely been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset in adolescence has rarely been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset is associated with slower progression and lesser severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset is associated with slower progression and lesser severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset may occur (1 to 11 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset may occur (1 to 11 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset of hearing loss in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset of hearing loss in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset of ophthalmoparesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset of ophthalmoparesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:later onset with a milder phenotype may also occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:later onset with a milder phenotype may also occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:leakage of fluid ('gusher') if the stapes is disturbed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:left side involvement associated with serious cardiac defect ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:left side involvement associated with serious cardiac defect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:leigh syndrome, x-linked ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:leigh syndrome, x-linked | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:length of calorie fast:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:length of time post dose:time:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions appear in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions appear in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions are present at birth or become apparent in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions are present at birth or become apparent in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions grow and spread with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions grow and spread with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions increase in size and number with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions increase in size and number with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions may become more prominent with sun exposure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions may become more prominent with sun exposure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lesions occur mainly on the pinnae of the ears or on the face ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:less severe phenotype in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:less severe phenotype in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:less than 50% penetrance in some families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:less than 50% penetrance in some families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lethal in 40% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in 40% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lethal in first weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in first weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lethal in the neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lethal in utero or in the perinatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lethal in utero or in the perinatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:levodopa-responsive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:levodopa-responsive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:life-threatening in infancy due to sepsis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:life-threatening in infancy due to sepsis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lifetime risk of breast cancer in male mutation carriers in 6% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lifetime risk of breast cancer in mutation carriers is 80 to 90% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:likely allelic to sc phocomelia syndrome (269000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limited clinical information due to surgical removal of lens in affected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limited clinical information due to surgical removal of lens in affected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limited clinical information provided ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limited clinical information provided | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:limited clinical information provided on patients with bbs7 mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:linked to 10q24 trisomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:linked to 10q24 trisomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lipodystrophic appearance may be mild or not present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lipodystrophic appearance may be mild or not present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:liver enzymes decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver enzymes decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:liver failure episodes associated with fever ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver failure episodes associated with fever | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:liver failure episodes cease in later childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver failure episodes cease in later childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:liver functions return to normal after 3 to 4 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver functions return to normal after 3 to 4 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:liver involvement can range from mild to severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:liver involvement can range from mild to severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:long duration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:long duration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:longer disease duration than creutzfeldt-jakob disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss initially affects mid and high frequencies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss initially affects mid and high frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss of ambulation within 10 years of onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of ambulation within 10 years of onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss of independent ambulation (in 2 of 3 patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss of independent ambulation due to muscle weakness in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss of independent ambulation in the second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of independent ambulation in the second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:loss of independent walking by teenage years (in some) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:loss of independent walking by teenage years (in some) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:low physical performance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:low physical performance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lower limb involvement precedes upper limb involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lower limb involvement precedes upper limb involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lower limbs more severely affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lower limbs more severely affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:luton and torrance type differentiated based on histologic findings in cartilage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lymphedema occurs in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lymphedema occurs in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lymphedema resolves by age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lymphedema resolves by age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lymphedema that presents at puberty is called meige disease (153200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:macular degeneration only occurs in some patients at very late age (over 70) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:macular degeneration only occurs in some patients at very late age (over 70) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:major fetal plasma protein produced by yolk sac and liver ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority are sporadic cases, affected sibs have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority are sporadic cases, affected sibs have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority cases are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority cases are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of affected individuals are female (85%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of affected individuals are female (85%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases are due to de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases are due to de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases are secondary to de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases are secondary to de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases are sporadic, some autosomal dominant families have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases from middle eastern countries ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases from middle eastern countries | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases have bilateral involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases have bilateral involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases in japan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases in japan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases in manitoba indians, northeastern manitoba, canada ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases in the afrikaner population of south africa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases in the afrikaner population of south africa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of cases occur in brazilian population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of cases occur in brazilian population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of eec cases appear to be secondary to tp63 (603273) mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of individuals are healthy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of individuals are healthy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of patients are pyridoxine-responsive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients are pyridoxine-responsive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of patients develop symptoms within the first few weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of patients from italy and southwestern united states ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of patients from italy and southwestern united states | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of por deficiency patients have an abs-like phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of wilms tumors are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of wilms tumors are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:majority of wws patients die within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:majority of wws patients die within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male infertility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male infertility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male patients have more severe disease than female patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male patients have more severe disease than female patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male predominance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male predominance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male to female ratio 21:8 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male to female ratio 21:8 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male to female ratio 7:1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male to female ratio 7:1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male-limited trait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male-limited trait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male-to-female ratio 3 to 1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male-to-female ratio 3 to 1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:male-to-female ratio of 3:2 in childhood cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males are more commonly affected than females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males are more commonly affected than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males are more severely affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males are more severely affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males are more severely affected than females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males are more severely affected than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males carry mutations in the somatic mosaic state ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males carry mutations in the somatic mosaic state | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males died in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males died in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males more frequently have severe lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males more frequently have severe lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:males mores severely affected than females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:males mores severely affected than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:malnutrition can be severe, requiring total parenteral nutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:manifestations of cushing syndrome may be mild ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:manifestations of cushing syndrome may be mild | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:manifestations present in second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:manifestations present in second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many become wheelchair bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many become wheelchair bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many cases are sporadic, but somatic and germline mosaicism has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many cases due to de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases due to de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many cases due to de novo mutation or chromosome aberration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many cases result from de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many cases result from de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many features are present only in an untreated patient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many features are present only in an untreated patient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients become wheelchair-bound by second or third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients become wheelchair-bound by second or third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients become wheelchair-bound later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients become wheelchair-bound later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients die by 1-3 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients die by 1-3 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients recover normally ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients recover normally | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:many patients require cardiac pacemakers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:many patients require cardiac pacemakers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked clinical heterogeneity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked clinical heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked favorable response to l-dopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked favorable response to l-dopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked phenotypic variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked phenotypic variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked phenotypic variability, even within an individual ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked phenotypic variability, even within an individual | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked variability in severity of the skin lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked variability in severity of the skin lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marked variability in the deletion size ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marked variability in the deletion size | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:massive aortic aneurysm can cause airway compression in affected infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:maternal breast milk is protective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal breast milk is protective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:maternal oligohydramnios ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal oligohydramnios | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:maternal uniparental disomy (upd)7 reported in some cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be benign condition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be benign condition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be exacerbated by febrile illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be exacerbated by febrile illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be fatal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be fatal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be fatal in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be fatal in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be induced by fever or hot bath ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be induced by fever or hot bath | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be lethal if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be lethal if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be lethal in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be lethal in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be lethal in infancy if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be lethal in infancy if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be present in asymptomatic adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be present in asymptomatic adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be same disorder as autosomal recessive optic atrophy 3 (258501) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be same entity as elejalde syndrome (256710) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be same entity as elejalde syndrome (256710) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be seen with other forms of cancer in a family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be seen with other forms of cancer in a family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be triggered by increased practice ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be triggered by increased practice | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may be x-linked ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may be x-linked | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may coexist with autoimmune vitiligo or thyroiditis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may have less severe phenotype than rsts patients with crebbp mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may manifest as 'ataxic' phenotype without parkinsonian features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may occur cormorbidly with poland syndrome (173800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may or may not be responsive to pyridoxine (vitamin b6) treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may present in infancy with episodes of severe metabolic decompensation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may progress to upper limbs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may progress to upper limbs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may regress in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may regress in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may respond to cholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may respond to cholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may respond to cholinesterase inhibitors of amifampridine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may respond to cholinesterase inhibitors of amifampridine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may result in death in neonatal period or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may result in death in neonatal period or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may result in early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may result in early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may result in early death from severe diarrhea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may result in early death from severe diarrhea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:may result in sudden death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:may result in sudden death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at diagnosis 16 years (range 6 to 22) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at diagnosis is 38 years(range 11-63 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 11.4 years (range 4 to 35) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 11.4 years (range 4 to 35) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 12.5 years (range 2 to 15 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 16.5 years (range 9 to 35 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 23.9 years (range 10 to 55 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 27 years (range 9 to 42) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 30.7 years (range 6 to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 41 years (range 18 to 61) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 41 years (range 18 to 61) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 45 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 45 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 48 years (range 38 to 64) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset for variant cjd is 29 years (before age 45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset is 10.4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset is 10.4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset is 13 years (range 6 to 43) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset of bone disease is 40 years (range 23-65) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at onset of muscle disease is 42 years (range 24-61) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age at resolution of symptoms 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age at resolution of symptoms 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of death is 34 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of death is 34 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of diagnosis is 40 years (range 11 to 79 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of diagnosis of renal cell carcinoma is 46 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of diagnosis of uterine leiomyomas is 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 14-24 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 14-24 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 18 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 18 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 21 years (range 14-35 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 30 years (range first to seventh decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 34 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 34 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 50.2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 50.2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean age of onset 56 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean age of onset 56 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mean duration of symptoms 4.2 plus or minus 2.4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mechanical ventilation may be required ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mechanical ventilation may be required | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mecp2 mutations are those found in females with rett syndrome (312750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age at diagnosis 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age at diagnosis 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age at onset is 21 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age at onset is 21 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age of diagnosis - 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of diagnosis - 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age of onset of leukoplakia - 7 years (range 1-26 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median age of onset of pancytopenia - 10 years (range 1-32 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median life expectancy, 13.4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median life expectancy, 13.4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:median onset of proteinuria is 18 years (range 10 to 21) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:meiotic origin >95% maternal, mostly meiosis i ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:melnick-needles syndrome (mns, 309350) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mental retardation likely secondary to neonatal hypoxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mental retardation, x-linked 102 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mental retardation, x-linked 102 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:metabolic decompensation, episodic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:metabolic decompensation, episodic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:metabolic rate^resting:engrat:pt:^patient:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:metabolic rate^resting:engrat:pt:^patient:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:microdeletion is approximately 1.5mb in length ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:microdeletion is approximately 1.5mb in length | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:middle age onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:middle age onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild cases show clinical, biochemical, and mri improvement after the second year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild expression in heterozygous carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild expression in heterozygous carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild facial dysmorphism is associated with duplication of the flna gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild features such as digital clubbing may be apparent in older heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild involvement of face and arms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild involvement of face and arms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild manifestations in carrier females (cleft lip, cleft tongue) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild phenotype onset - 11-18 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild phenotype onset - 11-18 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild symptoms may occur in teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild symptoms may occur in teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mild to severe forms of disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mild to severe forms of disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder expression in female heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder expression in female heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mildly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mildly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:minimal response to surfactant treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:minimal response to surfactant treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:minimum duplication includes bhlha9 (615416) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:minimum duplication includes bhlha9 (615416) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:miscellaneous ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:miscellaneous | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mliii is a heterogeneous disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mliii is a heterogeneous disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mode of inheritance is uncertain ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mode of inheritance is uncertain | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mode of inheritance is unclear ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mode of inheritance is unclear | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:moderate age-related improvement of pancreatic function ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:moderate age-related improvement of pancreatic function | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in ashkenazi jews ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in ashkenazi jews | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in females (male:female ratio 4:1) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in females (male:female ratio 4:1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in men (9:1 male:female ratio) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in men (9:1 male:female ratio) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in men than women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in men than women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more common in women (90%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more common in women (90%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more commonly observed in women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more commonly observed in women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more frequent in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more frequent in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more frequent in individuals of asian descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more frequent in individuals of asian descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more frequent in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more frequent in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more prevalent in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more prevalent in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more severe in males than in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more severe in males than in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:more than half of patients develop retinal detachments and/or retinoschisis later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:moroccan jewish and ashkenazi jewish families have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:moroccan jewish and ashkenazi jewish families have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mortality approximately 20% in first 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mortality approximately 20% in first 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mortality, premature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mortality, premature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mosaic distribution of lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mosaic distribution of lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most (80 to 90%) of cases result from deletions of the sts gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most affected infants die in the first month of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most affected infants die in the first month of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most affected infants die shortly after birth from respiratory failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most affected males die of respiratory failure within the first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most affected males die of respiratory failure within the first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most affected patients die in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most affected patients die in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most become wheelchair-bound late in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most become wheelchair-bound late in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most carrier females have mild mental retardation and subtle facial changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most case are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most case are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are autosomal dominant, recessive inheritance has rarely been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are caused by mutation in the phox2b gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are caused by mutation in the phox2b gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are isolated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are isolated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases are responsive to steroids ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases are responsive to steroids | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases do not have mutations in the mapt gene, but map to chromosome 17q ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases due to de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases due to de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases occur de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases occur de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases result from a de novo mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases result from a de novo mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases result from de novo mutation or deletion of rai1 (607642) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases result from de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases result from de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most cases sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most cases sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most children become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most children become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common age of clinical onset ranges from 16 to 33 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common cancer in men aged 15-40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common cancer in men aged 15-40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common disorder of fatty acid oxidation (1/13,000 births) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common episodic ataxia syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common episodic ataxia syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of bowel obstruction in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of bowel obstruction in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of childhood idiopathic epilepsy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of childhood idiopathic epilepsy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of congenital methemoglobinemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of congenital methemoglobinemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of inherited, congenital hydrocephalus ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of inherited, congenital hydrocephalus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common form of porphyria ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common form of porphyria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common inherited ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common inherited ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common inherited bleeding disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common inherited bleeding disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common inherited giant platelet disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common inherited giant platelet disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common muscle disease of older persons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common muscle disease of older persons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common mutation is leu276ile (606596.0004) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common mutation is leu276ile (606596.0004) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common subtype of frontotemporal dementia (600274) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most common terminal deletion syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most common terminal deletion syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most frequently affected joints - hands (98%) and feet (88%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most have onset in first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most have onset in first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most have resolution of symptoms between 6 and 12 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most individuals are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most individuals are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most individuals are wheelchair-bound or bedridden by adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most mutations occur de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most mutations occur de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients appear unaffected in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients appear unaffected in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are asymptomatic and are detected by newborn screening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are clinically asymptomatic and show normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are clinically asymptomatic and show normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are from finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are from finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are severely affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are severely affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients are stillborn or die in immediate neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become seizure-free by age 3 or 4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound after 20 to 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound in adolescence or as young adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound in later childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound in later childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients become wheelchair-bound in the second to fourth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die from heart failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die from heart failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in the first days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in the first days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in the first months or years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in the first months or years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die in the neonatal period due to respiratory insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die of hepatic failure by 9 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die of hepatic failure by 9 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die of renal failure in early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die of renal failure in early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients die within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients die within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients do not learn to sit or walk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients do not learn to sit or walk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have a family history of fragile x syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have a family history of fragile x syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have adult onset of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have adult onset of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have contiguous gene deletion syndrome involving xp22 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have contiguous gene deletion syndrome involving xp22 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have no bleeding abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have no bleeding abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients have severe streptococcus pneumoniae infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients lose ambulation 2 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients lose ambulation 2 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients need assistance walking or are wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients need hip replacement by their mid-thirties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients need hip replacement by their mid-thirties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients present in infancy with anemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients present in infancy with anemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients remain ambulatory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients remain ambulatory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients remain ambulatory in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients remain ambulatory in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients require liver transplant in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients require liver transplant in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients require liver transplantation within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients require liver transplantation within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients require renal transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients require renal transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients retain ambulation with aids ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients retain ambulation with aids | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most patients show early childhood onset after a period of normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most patients show early childhood onset after a period of normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most pregnancies with affected fetuses resulted in elective termination ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most pregnancies with affected fetuses resulted in elective termination | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most remit by 2 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most remit by 2 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most remit by 6 weeks (1-6 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most remit by 6 weeks (1-6 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most reported cases come from the island of mauritius or nearby islands ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most retain independent ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most retain independent ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most severe form of gaucher disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most severe form of gaucher disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most severe type of von willebrand disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most severe type of von willebrand disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:most types show autosomal dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:most types show autosomal dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mother had rubella infection during pregnancy with daughter ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mother had rubella infection during pregnancy with daughter | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mother who carries the mutation is clinically unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mother who carries the mutation is clinically unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor delay ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor delay | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor fluctuations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor fluctuations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor impairment more significant than sensory impairment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor impairment more significant than sensory impairment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor neuropathy more prominent than sensory neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor skills less affected than cognitive skills ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor skills less affected than cognitive skills | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor symptoms are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor symptoms are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor symptoms develop later (about 5 years into illness) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:motor symptoms show mild clinical improvement with levodopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mousy odor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mousy odor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:movements worsened by anxiety ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:movements worsened by anxiety | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mucocutaneous immunodeficiency syndrome may be prominent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mulibrey is an acronym (muscle, liver, brain, and eyes) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiorgan failure may result from hs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiorgan failure may result from hs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple congenital anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple congenital anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple gene loci involved in causation of schizophrenia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple lesions in familial cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple lesions in familial cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple prenatal fractures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple prenatal fractures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple seizures daily at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple seizures daily at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multiple spontaneous abortions in obligate carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multiple spontaneous abortions in obligate carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:multisystem decompensation in response to viral infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:multisystem decompensation in response to viral infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:murcs association ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:murcs association | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:muscle contractions in infancy occur in response to tactile stimulation or crying ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:muscle involvement shows onset at birth or in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:muscle involvement shows onset at birth or in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:muscle symptoms precede cardiac symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:muscle symptoms precede cardiac symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:muscle weakness increases with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:muscle weakness increases with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:muscle weakness occurs only in the presence of hyperthyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutant alleles have 47 to 63 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutant alleles have 47 to 63 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation carriers may show toxicity to 5-fluorouracil (5fu) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation found in 1 puerto rican family (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in npr2 results in gain-of-function ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in npr2 results in gain-of-function | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in rp9 gene in family (607331.0001) likely not pathogenic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in the hcrt gene has been identified in 1 patient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations are frequently maternally inherited ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations are frequently maternally inherited | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations have been identified in spanish families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations have been identified in spanish families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations occur de novo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations occur de novo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations result in inactivation of nkx3-2 (602183) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations result in inactivation of nkx3-2 (602183) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:mutations show partial penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:mutations show partial penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myoclonic seizures occur on awakening or within 2 hours of awakening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myoclonus is presenting symptom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myoclonus is presenting symptom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myoclonus occurs at rest and with action ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myoclonus occurs at rest and with action | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:n-myc oncogene (164840) amplification is associated with poor prognosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nail changes may be intermittent in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nail changes may be intermittent in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nails appear normal at birth, with dystrophic changes developing within the first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nails may be intermittently involved ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nails may be intermittently involved | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nails, palms, and soles are spared in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nails, palms, and soles are spared in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:narcolepsy and deafness are the first symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:narcolepsy and deafness are the first symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:natural aversion to carbohydrates ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:natural aversion to carbohydrates | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:natural aversion to carbohydrates and favoring of protein ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:near-normoglycemic remission for period of months to years without insulin treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nearly 100% penetrance by 60 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nearly 100% penetrance by 60 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal and late-infantile onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal and late-infantile onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal death secondary to pulmonary insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal lethal due to respiratory insufficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal lethal due to respiratory insufficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal onset of nephrotic syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal onset of nephrotic syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal or infant death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal or infant death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal sepsis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal sepsis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal severe hyperparathyroidism in homozygotes (239200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neonatal/infantile death in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neonatal/infantile death in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuroendocrine recovery occurs in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuroendocrine recovery occurs in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic deterioration is severe after age 2 to 2.5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic dysfunction is infrequent and associated with delayed diagnosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic features are variable and not progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic features are variable and not progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic features have been diagnosed in ~30% of cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic features occur in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic features occur in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic features occur later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic features occur later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic findings closely resemble those of huntington disease (hd, 143100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic involvement may occur in the absence of visceral involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic signs are present in the neonatal period only ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic signs are present in the neonatal period only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic signs last hours to days ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic signs last hours to days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic signs may not be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic signs may not be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic signs onset during adolescence or young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic symptoms are not always present or may appear late ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic symptoms are not always present or may appear late | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic symptoms are progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic symptoms are progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic symptoms may develop decades later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic symptoms may develop decades later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurologic symptoms may occur after trauma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurologic symptoms may occur after trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuromuscular forms can present as perinate, infant, child, or adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuromuscular, cardiovascular, and infectious symptoms improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuropathy becomes apparent in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuropathy becomes apparent in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neuropsychiatric manifestations are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neuropsychiatric manifestations are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:new skin lesions stop appearing before adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:new skin lesions stop appearing before adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:newborn period is critical for survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:newborn period is critical for survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:night blindness from early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:night blindness from early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nine patients have been reported in detail (as of 14 june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ninety percent of cases are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ninety percent of cases are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no abdominal symptoms or neurologic symptoms in harderoporphyria ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no abnormalities of hair, teeth, or bones ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no abnormalities of hair, teeth, or bones | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no abnormalities of skin, hair, teeth, or bones ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no cardiac or immune defects in patients from the 2 reported families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no chronic or permanent liver damage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no chronic or permanent liver damage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no clinical description given for 1 reported patient (last curated december 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no clinical details provided by the authors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no clinical details provided by the authors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no clinical manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no clinical manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no clinical manifestations were noted (incidental laboratory finding) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no congenital form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no congenital form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no consistent disease phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no consistent disease phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no family history of ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no family history of | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no family history, de novo mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no family history, de novo mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no features consistent with cystic fibrosis found in these patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no history of familial hypercholesterolemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no history of familial hypercholesterolemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no increased fragility of hair ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no increased fragility of hair | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no laterality defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no laterality defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no male-to-male transmission ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no male-to-male transmission | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no mutations reported in la reunion island patients (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no neurologic sequelae ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no neurologic sequelae | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no opportunistic infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no opportunistic infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no peripheral signs of hypothyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no peripheral signs of hypothyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no phenotype in heterozygotes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no phenotype in heterozygotes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no phenotypic manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no phenotypic manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no preceding skin inflammatory stage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no preceding skin inflammatory stage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no predisposition to skin tumor development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no predisposition to skin tumor development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no recurrence of nephrotic syndrome after transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no recurrence of nephrotic syndrome after transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no response or worsening with acetylcholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no response to phenobarbital ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no response to phenobarbital | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no situs inversus ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no situs inversus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no skeletal abnormalities in odontohypophosphatasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no skin abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no skin abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:no systemic manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:no systemic manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:non-progressive and more severe progressive forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:non-progressive and more severe progressive forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:non-progressive or very slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:non-progressive or very slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:non-tender ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:non-tender | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonpenetrance has been observed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonpenetrance has been observed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonprogressive hepatic form is less frequent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonprogressive hepatic form is less frequent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonprogressive in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonprogressive in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonprogressive or slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonprogressive or slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonprogressive or very slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonprogressive or very slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonreflex epilepsy may occur later in 16 to 38% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonspecific subtle dysmorphic facial features may be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonspecific subtle dysmorphic facial features may be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonsyndromic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonsyndromic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nonsyndromic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nonsyndromic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal ability to tolerate heat ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal ability to tolerate heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles contain 15 to 50 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles contain 15 to 50 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles contain 6 to 28 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles contain 6 to 28 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles contain up to 30 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles contain up to 30 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles contain up to 44 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles contain up to 44 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles have 25 to 44 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles have 25 to 44 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal alleles have 4 to 18 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal alleles have 4 to 18 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal birth (finding) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal birth (finding) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal cag repeat length is 7 to 32 triplets ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal development before onset of seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal development before onset of seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal development between episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal development between episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal development until onset of seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal development until onset of seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal female secondary sexual characteristics ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal female secondary sexual characteristics | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal fertility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal fertility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal first month ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal first month | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal growth and development after 1 year of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal growth and development after 1 year of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal intelligence in majority ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal intelligence in majority | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal neonatal blood phenylalanine has been reported in rare patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal neonatal course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal neonatal course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal range of expanded repeats 9-29, hd range 36-121 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal sclerae and teeth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal sclerae and teeth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal sialophorin gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal sialophorin gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:normal sweat electrolytes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:normal sweat electrolytes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all nails are affected in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all nails are affected in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have a myopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have a myopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have all features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have all features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have dysmorphic facial features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have dysmorphic facial features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have facial dysmorphism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have facial dysmorphism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have renal involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have renal involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not all patients have skeletal muscle symptoms or mental retardation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not responsive to biotin treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not responsive to biotin treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:not responsive to steroid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:not responsive to steroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:noted in early childhood in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:noted in early childhood in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nphp shows autosomal recessive inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nphp shows autosomal recessive inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:number of episodes varies from 1 to many (up to 20) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nyctalopia is a later feature of the disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nyctalopia is a later feature of the disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nystagmus is often the presenting sign ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nystagmus is often the presenting sign | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:nystagmus may disappear by mid-childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:nystagmus may disappear by mid-childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:obligate female carriers may show mild signs of muscle weakness, especially of the face ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:obligatory heterozygotes are clinically unaffected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:obligatory heterozygotes are clinically unaffected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:observed in individuals of bulgarian roma bowlmaker ethnic group ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occasional adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occasional adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occasionally low-dose insulin required ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occasionally low-dose insulin required | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs at age 20-50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs at age 20-50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs during pregnancy, most often in the third trimester ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs during pregnancy, most often in the third trimester | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in 1 in 50,000 newborn males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in 1 in 50,000 newborn males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in 2-5 per 10,000 individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in 2-5 per 10,000 individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in about 1 in 10,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in about 1 in 10,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in full-term infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in full-term infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in full-term newborns ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in full-term newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in the absence of trauma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in the absence of trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in women and is triggered by pregnancy or estrogen therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs in ~3% pregnancies in western populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs in ~3% pregnancies in western populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs more frequently in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs more frequently in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs most often among black africans ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs most often among black africans | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs most often between 5 and 15 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs most often between 5 and 15 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs most often in developing countries in tropical regions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs most often in developing countries in tropical regions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs much more commonly in women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs much more commonly in women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:occurs on right side in 75% of cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:occurs on right side in 75% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ocular abnormalities may be very mild ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ocular abnormalities may be very mild | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:oculomotor apraxia is not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:oculomotor apraxia is not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:odor of 'sweaty feet' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:odor of 'sweaty feet' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often associated with chiari type i malformation (cm1, 118420) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often associated with klippel-feil anomaly (118100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often associated with klippel-feil anomaly (118100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often associated with syringomyelia (186700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often associated with syringomyelia (186700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often confused with tuberous sclerosis (191000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often confused with tuberous sclerosis (191000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often diagnosed between ages 3-4 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often diagnosed between ages 3-4 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often fatal due in infancy due to intractable diarrhea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often fatal in utero ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often fatal in utero | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often identified in newborn period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often identified in newborn period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often lethal in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often lethal in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often presents with cranial or cervical involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often presents with cranial or cervical involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often reared as females until puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often reared as females until puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often refractory to medical therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often refractory to medical therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often results in death in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often results in death in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:often unilateral involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:often unilateral involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:old order amish, african american, and french patients have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:old order amish, african american, and french patients have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:older individuals had moderate to severe hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:older individuals had moderate to severe hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:older patients become wheelchair-dependent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:older patients become wheelchair-dependent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 3-generation danish family reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 3-generation danish family reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 3-generation italian family has been described (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 3-generation italian family has been described (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 4-generation chinese family has been reported (as of 04/2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 5-generation chinese family reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one 9-generation family and 1 isolated patient described (last curated march 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one amish family has been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one amish family has been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one boy and 5 unrelated girls have been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one brazilian family with 12 affected individuals reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one canadian mennonite family has been reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one chinese family has been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one chinese family has been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one chinese family has been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one chinese family has been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one chinese family with 14 affected individuals has been described (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one chinese family with a confirmed mutation has been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one compound heterozygous patient reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous algerian family has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous algerian family has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous arab family has been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous arab family has been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous arab family has been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous arab family has been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous arab israeli family has been reported (last curated february, 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous costa rican family has been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous costa rican family has been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated december 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated may 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family has been reported (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family has been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family of indian descent has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous italian family has been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous italian family has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous moroccan family has been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been described (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated june 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family has been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani family reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous pakistani reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous saudi arabian family has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous saudi family has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous senegalese family has been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous tunisian family has been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous tunisian family has been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one consanguineous turkish family has been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family (4 affected members) has been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and 1 unrelated patient have been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and 1 unrelated patient have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and 1 unrelated patient have been reported (last curated january 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and 1 unrelated patient have been reported (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and an unrelated patient have been reported (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and an unrelated patient have been reported (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and an unrelated patient have been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family described (last curated october 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family described (last curated october 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family from hong kong has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family from punjab, india has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family from the old order amish has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family had normal cognitive and neurologic development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family had normal cognitive and neurologic development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been described (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been described (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of 4/2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of 4/2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of april 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of april 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of august 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of august 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of curation date may, 2013) onset in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of january 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of january 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of october 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of october 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (as of september 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (as of september 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated december 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated december 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated january 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated january 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated june 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated june 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated march 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated march 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated october 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated october 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported and no additional clinical features were provided (last curated june 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family has been reported with limited clinical information (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of algerian descent has been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of french-canadian origin has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of french-canadian origin has been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of french-canadian origin has been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of irish traveller descent described (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of irish traveller descent described (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of italian-american descent has been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of italian-american descent has been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of mali origin has been reported (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of puerto rican descent has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family of sicilian origin has been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family of sicilian origin has been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (as of may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (as of may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (as of november 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (as of november 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated july 2008) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated july 2008) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated june 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated june 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated november 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated november 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family reported with piezo2 mutation (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 2 affected brothers has been reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 2 affected fetuses has been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 2 sisters have been reported (as of march 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 3 affected girls has been reported (as of october 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 3 affected individuals has been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 3 affected individuals has been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 3 affected males has been reported (as of october 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 4 affected sibs has been reported (as of april 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 5 affected members has been reported (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with 6 probands described (as of september 2000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with 6 probands described (as of september 2000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a cacna1b mutation has been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a cacna1b mutation has been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a fatal subacute encephalopathy has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with autosomal dominant inheritance had only progressive bone marrow failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with confirmed genetic basis has been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one french family has been reported (as of march 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one french family has been reported (as of march 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one french family has been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one french family has been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one french family has been reported (last curated march 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one french family has been reported (last curated march 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one german family has been reported (as of september 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one german family has been reported (as of september 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one han chinese family and one german family have been described (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one han chinese family and one german family have been described (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one indian family has been reported (as of october 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one indian family has been reported (as of october 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one italian family has been described (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one italian family has been described (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one italian family has been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one italian family has been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one japanese family has been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one japanese family has been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one japanese patient has been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one korean family has been reported (as of november 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one korean family has been reported (as of november 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large 3-generation irish family has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large 4-generation uruguayan family reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large consanguineous arab muslim family has been reported (as of september 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large family has been reported (as of 2008) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large family has been reported (as of 2008) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large family has been reported (last curated june 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large family has been reported (last curated june 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large italian kindred has been reported (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large italian kindred has been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one large swedish family has been reported (as of april 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one large swedish family has been reported (as of april 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one likely consanguineous turkish family has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one male patient has been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one male patient has been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one of the 2 most common forms of albinism in the world, along with oca2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one of the 2 most common forms of oca in the world along with oca1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one of the most common autoimmune diseases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one of the most common autoimmune diseases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one pakistani family has been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one pakistani family has been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one pakistani family reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one pakistani family reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one pakistani reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one pakistani reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one palestinian family and one lebanese family have been described (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one palestinian family and one lebanese family have been described (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient died at 17 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient died at 17 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient died at age 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient died at age 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient had onset at age 4 months after normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient had onset at age 4 months after normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient had onset at birth and a more severe disorder resulting in death at a young age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been described (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been described (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of april 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of april 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of august 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of august 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of curation date may, 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of december 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of december 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of july 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of july 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of march 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of march 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of may 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of may 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (as of sept 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (as of sept 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated january 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated january 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated november 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated november 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient reported with col3a1 mutation (120180.0020) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient reported with slitrk1 mutation (as of january 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient showed improvement and was thriving at 46 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient studied at molecular level (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient studied at molecular level (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient was asymptomatic and detected by neonatal screening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient was asymptomatic and detected by neonatal screening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient was less severely affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient was less severely affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with a de novo mutation has been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with a de novo mutation has been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with a homozygous mutation has been reported (as of 14 june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with additional features of fanconi anemia has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with episodic ataxia and later onset has been reported (as of june 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with limited clinical information has been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with normal cognition has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with normal cognition has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with normal psychomotor development has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with normal psychomotor development has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with normal psychomotor development has been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with severe congenital onset has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with severe congenital onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one patient with unrelated german parents has been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one patient with unrelated german parents has been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one report of a large italian family from sardinia (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one report of a large italian family from sardinia (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one report of brother and sister from nonconsanguineous parents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one report of mother and son (last curated august 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one report of mother and son (last curated august 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one six-generation family from northern china has been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one six-generation family from northern china has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one spanish family has been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one spanish family has been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one spanish family has been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one spanish family has been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one swedish patient has been reported (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one swedish patient has been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one swiss family with 19 affected individuals has been described (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one third of patients represent new mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one third of patients represent new mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one turkish girl has been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one-third of cases are familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one-third of cases are familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:one-third of cases are sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:one-third of cases are sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only 10% develop hypertension at 18 years of age or less ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only 13% develop hypertension at 18 years of age or less ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only 46,xy individuals are affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only 46,xy individuals are affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only apparent in patients taking eculizumab ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only apparent in patients taking eculizumab | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only female patients reported (last curated october 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only female patients reported (last curated october 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only individuals homozygous for risk or non-risk alleles were studied ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only individuals homozygous for risk or non-risk alleles were studied | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only some patients showed neurologic involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only some patients showed neurologic involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:only women have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:only women have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset - present at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset - present at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 0-12 hours after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 0-12 hours after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 1-12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 1-12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 1-70 years of age (95% by early 50's) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 10-20 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 10-20 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 13 to 63 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 13 to 63 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 13-15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 13-15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 14 months to 4 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 14 months to 4 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 2-4 years of age in iia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 2-4 years of age in iia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 20-55 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 20-55 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 23 to 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 23 to 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 3 months of age up to 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 3 months of age up to 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 30-40 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 30-40 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 3rd to 4th decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 3rd to 4th decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 5 to 10 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 5 to 10 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 5 to 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 5 to 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 5-30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 5-30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 50 to 65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 50 to 65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 6 months to 2.5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 6 months to 2.5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 6 to 12 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 6 to 12 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 6 to 18 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 6 to 18 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 6 to 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 6 to 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 6-13 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 6-13 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 7 to 15 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 7 to 15 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 70-90 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 70-90 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset 8-20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset 8-20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset <30 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset <30 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset about 6 months of age after normal growth and development in the first few months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset after age 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset after age 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset after age 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset after age 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset after puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset after third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset after third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset age 14-28 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset age 14-28 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset age 15-25 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset age 15-25 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset age 2 to 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset age 2 to 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset age 20 to 51 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset age 20 to 51 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset age 32 to 45 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset age 32 to 45 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ages 2 to 14 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ages 2 to 14 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset and diagnosis may occur later (after age 20 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset around adolescence in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset around adolescence in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset around age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset around age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset around puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset around puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset as neonate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset as neonate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 2 to 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 2 to 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 2 to 4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 2 to 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 4 to 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 4 to 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 4 to 7 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 4 to 7 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 4 to 9 weeks of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 4 to 9 weeks of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 4 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 4 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 5-24 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 5-24 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 6-36 hours of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 6-36 hours of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at 6-9 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at 6-9 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at age 10 to 14 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at age 10 to 14 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at age 3-5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at age 3-5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at age 36 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at age 36 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at age 5 to 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at age 5 to 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at birth or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at birth or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at birth or early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at birth or early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at birth or in first days or life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at birth or in first days or life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at birth or in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at birth or in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at day 1 of life has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at day 1 of life has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at early age, associated with sudden death in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at early age, associated with sudden death in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset at or soon after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset at or soon after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before 10 years of age in all patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before 10 years of age in all patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before 18 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before 18 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before 50 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before 50 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 20 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 20 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset before age 5 years in the absence of instruction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset before age 5 years in the absence of instruction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 1-3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 1-3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 10 and 20 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 10 and 20 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 12 and 30 years (average 22) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 12 and 30 years (average 22) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 13 to 37 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 13 to 37 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 15 and 27 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 15 and 27 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 18 and 65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 18 and 65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 2 and 4 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 2 and 4 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 2 to 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 2 to 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 2-5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 2-5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 28 and 42 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 28 and 42 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 28-32 weeks of gestation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 28-32 weeks of gestation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 3 and 11 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 3 and 11 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 3 and 6 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 3 and 6 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 3 and 8 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 3 and 8 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 34 and 51 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 34 and 51 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 35-43 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 35-43 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 5 and 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 5 and 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 5 to 28 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 5 to 28 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 6 and 12 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 6 and 12 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 6 and 14 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 6 and 14 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 6 and 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 6 and 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 6 and 16 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 6 and 16 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 6 and 9 months after normal early development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 6 and 9 months after normal early development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 7 and 18 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 7 and 18 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 7 and 27 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 7 and 27 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 8 and 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 8 and 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between 9 and 16 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between 9 and 16 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between age 2 and 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between age 2 and 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between age 30-50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between age 30-50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between age 4 to 7 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between age 4 to 7 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 1 to 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 1 to 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 10 and 25 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 10 and 25 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 12 and 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 12 and 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 16-55 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 16-55 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 2 and 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 2 and 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between ages 5 and 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between ages 5 and 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between birth and 3 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between birth and 3 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between second to sixth decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between second to sixth decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset between the second and sixth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset between the second and sixth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset beyond the second year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset beyond the second year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset bimodal, ages 16-22 and ages 57-60 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset birth to 6 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset birth to 6 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset birth to early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset birth to early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset birth to early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset birth to early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset by 1 year of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset by 1 year of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset by 3 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset by 3 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset day of life 1-10 in infants fed lactose-containing milk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset early in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset early in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset first to seventh decade with 30 to 40 year mode ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset from birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset from birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset from first to third decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset from first to third decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in 1st to 3rd decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in 1st to 3rd decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence or adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence or adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence or adulthood has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence or adulthood has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence or young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence or young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence or young adulthood has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence or young adulthood has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adolescence to early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adolescence to early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in adulthood (third to fourth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in adulthood (third to fourth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (3 to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (3 to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (5 to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (5 to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (6-7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (6-7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (ages 1.5 to 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (later than in antenatal bartter syndrome 241200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (mean 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (mean 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (mean age 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (mean age 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range 0.5 to 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range 1 to 12 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range 1 to 12 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range 1 to 9 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range 1 to 9 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range 2 to 16 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range 2 to 16 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range 4 to 12 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range 4 to 12 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range birth to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range birth to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range infancy to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range infancy to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (range infancy to 14 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (range infancy to 14 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood (usually before age 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood (usually before age 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood of blistering and pigmentary changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood of blistering and pigmentary changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or adolescence (median age of 9 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or adolescence (range 6 to 15 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or adolescence in most patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or adolescence in most patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or as young adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or as young adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or early adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or early adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or teenage years (7 to 16 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood or youth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood or youth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood with exacerbation during puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood with exacerbation during puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood, adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood, adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood, adolescence, and adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood, adolescence, and adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in childhood, but most noticeable in mid-teens and early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early adulthood (average 26 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early adulthood (average 26 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (2-4 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (2-4 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (4 to 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (4 to 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (age 3) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (age 3) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (infancy to 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (infancy to 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (infancy to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (infancy to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood (infancy to age 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood (infancy to age 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood after initial normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood after initial normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood or adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early childhood to puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early childhood to puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early first decade, although some patients have onset at birth or early in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early infancy (2 to 3 months of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early infancy (2 to 3 months of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early infancy, between 2 weeks and 3 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early to late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early to late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in early twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in early twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in feet and legs (peroneal distribution) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in feet and legs (peroneal distribution) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in females ranges from third to seventh decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in females ranges from third to seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fifth or sixth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fifth or sixth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fifties or sixties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fifties or sixties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first 2 decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first 2 decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first 2 decades (range 6 to 15 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first 2 decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first 2 decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first 6 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first 6 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first 8 weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first 8 weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first and second decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first and second decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (average 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (average 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (birth to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (birth to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (birth to age 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (birth to age 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (e.g. 180380.0028) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (e.g. 180380.0028) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (range 1 to 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (range 1 to 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade (range 1 to 9 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade (range 1 to 9 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first decades (males) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first decades (males) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first few years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first few years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first hours to days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first hours to days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first month of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first month of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first months or years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first months or years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first or second decade (range 4 to 13 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first or second decade (range infancy to teenage years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first or second decade (range infancy to teenage years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first or second decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first or second decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first weeks or months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first weeks or months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in first weeks to months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in first weeks to months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fourth and fifth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fourth and fifth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fourth to fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fourth to fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in fourth to sixth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in fourth to sixth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (1-2 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (1-2 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (3 months on) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (3 months on) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (3 to 7 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (3 to 7 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (average 4 months, but may be earlier) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (first hours to weeks of life) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (first hours to weeks of life) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy (first year of life) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy (first year of life) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy after normal birth and neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy after normal birth and neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy after weaning ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy after weaning | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy after weaning from being breast-fed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy after weaning from being breast-fed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy and early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy and early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy and third decade had been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy and third decade had been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy of acute hypoglycemic episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or childhood (range 1 to 13 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or childhood (range 1 to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or early childhood (before age 3 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or early childhood (birth to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or first years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or first years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or in the first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or in the first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy or late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy or late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy up to 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy up to 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy was reported in 1 family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy was reported in 1 family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in infancy, but may not be diagnosed until later in mild cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late adulthood (44 to 73 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late adulthood (44 to 73 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late childhood (after age 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late childhood (after age 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late childhood or adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late childhood or adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late childhood or early teens ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late childhood or early teens | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late childhood/adolescence (approximately 15 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late teens to early forties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late teens to early forties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late teens to twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late teens to twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late twenties to thirties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late twenties to thirties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in late-childhood to early adulthood (12 to 20 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in lower limbs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in lower limbs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in males in first to third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in males in first to third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in mid to late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in mid to late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in mid-adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in mid-adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in mid-forties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in mid-forties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in middle age (44 to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in middle age (44 to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in neonatal period or before age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in neonatal period or before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in neonatal period or early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in neonatal period or early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in neonatal period or infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in neonatal period or infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in newborns or infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in newborns or infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second and third decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second and third decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second and third decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second and third decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second decade of life progresses from mild to profound hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second decade of life progresses from mild to profound hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second decade or as young adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second decade or as young adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second decade, but sometimes earlier ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second decade, but sometimes earlier | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second half of the first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second half of the first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second or third decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second or third decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second to fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second to fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second to fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second to fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in second to third decades (postlingual) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in second to third decades (postlingual) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teenage or young adult years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teenage or young adult years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teens has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teens has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teens or early twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teens or early twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teens or young adulthood (range 13 to 45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teens to 20's ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teens to 20's | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in teens to late twenties (range 14 to 44 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the 3rd decade of life or later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the 3rd decade of life or later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first decade (range birth to 8 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first decade (range birth to 8 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first few months of life patients may need lifelong total parenteral nutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first hours or days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first hours or days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first months of life (3 to 7 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first months of life (3 to 7 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the first or second decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the first or second decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the fourth to sixth decades (mean 40 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the neonatal period (0-38 days) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the neonatal period (0-38 days) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the perinatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the perinatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the second or third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the second or third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the second to fourth decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the second to fourth decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in the sixth or seventh decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in the sixth or seventh decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in third or fourth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in third or fourth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in third to fifth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in third to fifth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in third to fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in third to fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in utero in severely affected patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in utero in severely affected patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in utero or at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in utero or at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in utero or early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in utero or early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in utero or in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in utero or in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in utero, infancy, or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in utero, infancy, or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in young adulthood (range 18 to 23 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset in young adulthood or adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset in young adulthood or adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset is usually in childhood or adolescence (2 to 18 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset may also occur in early infancy, adolescence, or adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset may be prelingual or in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset may be prelingual or in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset may occur in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset may occur in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset mid to late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset mid to late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset occurs earlier in males than females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset occurs earlier in males than females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of abnormal eye movements in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of abnormal eye movements in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of acanthosis nigricans correlates with onset of diabetes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of acanthosis nigricans in childhood or by puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of acanthosis nigricans in childhood or by puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of achalasia in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of achalasia in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of acne in adolescence, persists into adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of acne in adolescence, persists into adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of acute encephalopathic attacks in childhood (3 to 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of alopecia in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of alopecia in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of arthritis in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of arthritis in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of ataxia and neuropathy in early twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of ataxia and neuropathy in early twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of ataxia between 1 and 3 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of ataxia between 1 and 3 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of ataxia in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of ataxia in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of ataxia in early childhood (range 15 months to 3 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of ataxia in the fifties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of ataxia in the fifties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of autoinflammation in infancy or first few years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of bleeding in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of bleeding in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of bleeding symptoms in childhood or young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of blistering skin in infancy with improvement over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of blistering skin in infancy with improvement over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of bone disease in second decade (range 18-44 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of bone fragility in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of bone fragility in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of calf hypotrophy may occur earlier ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of calf hypotrophy may occur earlier | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cardiac symptoms in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cardiac symptoms in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cardiomyopathy may occur several months after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cataracts in late adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cataracts in late adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of choreoathetosis in childhood or young adult (6-23 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of choroideremia in second to third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of choroideremia in second to third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of chronic progressive polyneuropathy in late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of clinical features around puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of clinical features around puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of contractures in utero ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of contractures in utero | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of cough in early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of cough in early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of crises in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of crises in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of deafness and diabetes in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of deafness and diabetes in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of deafness in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of deafness in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of dementia in the thirties or forties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of dementia in the thirties or forties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of diabetes at less than 25 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of diabetes at less than 25 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of diabetes in neonatal period/ early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of diabetes in teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of diabetes in teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of dilated cardiomyopathy less than 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease 3-30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease 3-30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease 3-8 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease 3-8 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease 7 months to 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease 7 months to 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease after fourth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease after fourth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease around 10 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease around 10 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease before 7 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease before 7 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease between 25 and 40 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease between 25 and 40 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease in fourth or fifth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease in fourth or fifth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease in late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease in late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of disease within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of disease within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of dysmorphic features and developmental delay in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of dystonia at 12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of dystonia at 12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of dystonia is in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of dystonia is in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of edema in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of edema in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of encephalopathy between ages 2 and 3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of end-stage renal disease 15 to 20 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of episodic liver failure in first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of episodic liver failure in first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of essential tremor between 16 and 44 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of essential tremor between 16 and 44 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of febrile seizures typically between 6 months and 6 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of fracture usually when child begins to walk ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of fracture usually when child begins to walk | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of fractures 4-18 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of fractures 4-18 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of fractures in infancy to early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of fractures in infancy to early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of gait abnormalities at 8 to 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of gastrointestinal tumors typically occurs in the second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of gaze palsy at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of gaze palsy at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hand involvement at 14 to 60 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hand involvement at 14 to 60 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in childhood (range 7 to 13 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in late childhood or adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in late childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss prior to or during adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss prior to or during adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hearing loss ranges from childhood to young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hematologic or cns tumors in the first or second decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hemolytic anemia shortly after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hemolytic anemia shortly after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hyperuricemia or gout in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of hypoglycemia and hyperinsulinism in the neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of illness often associated with acute infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of illness often associated with acute infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of insulin resistance may occur in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of insulin resistance may occur in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of joint contractures later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of joint contractures later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of joint pain in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of joint pain in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of kyphosis in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of kyphosis in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lesions may occur in early childhood or as late as the seventh decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lesions may occur in early childhood or as late as the seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of linear striations between 5 months and 6 years (only in affected females) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lipodystrophy in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lipodystrophy in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lipodystrophy later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lipodystrophy later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of liver involvement in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of liver involvement in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of lymphedema before puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of lymphedema before puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of macrocephaly in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of macrocephaly in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of major clinical features in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of major clinical features in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of malignancy can occur throughout life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of malignancy can occur throughout life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of mental impairment in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of mental impairment in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of mild symptoms in first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of mild symptoms in first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of motor disturbances in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of motor disturbances in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of muscle weakness around age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of muscle weakness around age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of muscle weakness in early childhood, usually before age 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of muscle weakness in fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of muscle weakness in fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of muscle weakness in late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of muscle weakness in late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of myoclonus later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of myoclonus later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of neurologic disease in early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of neurologic disease in early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of neurologic events can occur between 4 and 35 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of neurologic features is variable, even within the same family (range early childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of neurologic symptoms often by 30 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of neurologic symptoms often by 30 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of neuromuscular symptoms between 6 months and 1 year of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of normal pressure hydrocephalus after age 65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of optic atrophy in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of optic atrophy in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of optic atrophy in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of optic atrophy in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of optic atrophy in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of optic atrophy in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of optic neuropathy is usually in early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of osteoarthritis in teens to early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of other symptoms in adolescence or early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of overgrowth in second to third month of life (in some cases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of overgrowth in second to third month of life (in some cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of palmoplantar hyperkeratosis 7-8 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of parkinsonism in early twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of parkinsonism in early twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of parkinsonism in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of parkinsonism in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of peripheral neuropathy in the first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of peripheral neuropathy in the first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of peripheral neuropathy ranges from childhood to mid-adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of progressive spastic paraplegia in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of progressive spastic paraplegia in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of proteinuria in the second to fourth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of proteinuria in the second to fourth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of proteinuria in the third to fourth decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of proteinuria in the third to fourth decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of renal dysfunction in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of renal dysfunction in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of renal failure in adulthood (range twenties to fifties) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of scoliosis as early as 2 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of scoliosis as early as 2 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures around 7 to 12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures around 7 to 12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures at 2-8 days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures at 2-8 days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures before age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures before age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures between 2 and 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures between 2 and 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures between 8 and 11 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures between 8 and 11 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures between 9 and 12 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures between 9 and 12 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in first 6 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in first 6 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in first months of life (usually 4 to 7 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures in later childhood (5 to 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of seizures ranges from 2 to 11 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of seizures ranges from 2 to 11 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of sensory neuropathy in later adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of sensory neuropathy in later adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of skin lesions at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of skin lesions at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of skin manifestations from birth to puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of skin manifestations from birth to puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of sleep terrors between age 4 and 12 years old ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of sleepwalking between 4 and 8 years old ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of slowly progressive spastic paraplegia in first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of spastic paraplegia in first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of spastic paraplegia in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of spasticity by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of spasticity by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of spasticity in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of spasticity in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms 2-12 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms 2-12 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms 2-4 weeks of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms 2-4 weeks of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms 2-6 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms 2-6 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms after age 5 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms after age 5 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms age 5-30 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms age 5-30 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms at 2-4 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms at 2-4 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms between ages 3-8 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms between ages 3-8 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in adolescence or early adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in adolescence or early adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in childhood with stiff, painful joints ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in first or second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in first or second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in second or third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in second or third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in second or third decade (mean 25 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in second to fifth decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in second to fifth decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in second to third decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in second to third decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in the fourth to sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in third to fourth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in third to fourth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms in third to sixth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms in third to sixth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms less than one year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms less than one year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms often associated with nonspecific febrile illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms usually between 12-15 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms usually between 12-15 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms usually in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms usually in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of symptoms within the first 2 decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of symptoms within the first 2 decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of thrombocytopenia in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of thrombocytopenia in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of thrombosis by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of thrombosis by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of tremor usually before onset of seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of tremor usually before onset of seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of tumors usually in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of tumors usually in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of vision loss in young adulthood (<20 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of vision loss in young adulthood (<20 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of visual loss in childhood (around age 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of visual loss in the first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of visual loss in the first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset of visual loss in the first or second decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset of visual loss in the first or second decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset often begins in childhood or adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset often begins in childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset often in late adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset often in late adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset precipitated by fasting or illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset precipitated by fasting or illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset prenatally or at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset prenatally or at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from 2 days to 7 months (most at 2-3 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from birth to age 4 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from birth to age 4 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from childhood to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from childhood to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from childhood to young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from childhood to young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from early childhood to adulthood (usually before age 15) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from first to third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from first to third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset ranges from young adulthood to sixties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset ranges from young adulthood to sixties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset soon after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset soon after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset soon after birth or within the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset soon after birth or within the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset typically in childhood although onset in late adolescence or early adulthood has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually after age 40 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually after age 40 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually after viral-like infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually after viral-like infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually associated with febrile illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually associated with febrile illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually at 2 to 6 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually at 2 to 6 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually at birth, but may occur later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually at birth, but may occur later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually before age 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually before age 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually before age 40 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually before age 40 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually before age 40 years (range 15 to 55) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually between 30 and 50 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually between 30 and 50 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually by age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually by age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in adulthood although childhood onset has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood (1 to 9 years of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood (infancy to teens) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood (infancy to teens) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood (range 17 months to 39 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood (range 6 months to 16 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood (range infancy to late childhood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in childhood after bcg vaccination ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in childhood after bcg vaccination | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in early adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in early adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in early childhood (but can range from infancy to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in early childhood (but can range from infancy to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in early childhood, although ranges from birth to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first month of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first month of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first or second decade (mean 10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first or second decade (mean 10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first or second decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first or second decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first to third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first to third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy although later onset may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy although later onset may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy or childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy or early childhood (9 months to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in late adolescence or early adulthood (range 15 to 45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in late infancy or childhood (1 to 6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in mid-teens, average 15 years (range 2 to 20 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in second decade (may occur earlier) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in second decade (may occur earlier) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in second decade of life, although earlier and later onset have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in second or third decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in second or third decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in the first 4 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in the first 4 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in the first decade (range 0.8 to 5 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in the neck ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in the neck | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in the neonatal period although later onset has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in the third decade (range 11 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in third decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in third decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in third or fourth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in third or fourth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset usually within first weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset usually within first weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within first 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within first 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within first 2 years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within first 2 years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within first 3 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within first 3 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within first 6 months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within first 6 months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:onset within the first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:onset within the first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ophthalmologic signs onset in first to sixth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:opportunistic infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:opportunistic infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:oral contraceptives may also cause symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:oral contraceptives may also cause symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:oral supplementation with ubiquinone does not result in major clinical improvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ossification evident 2-8 months following swelling ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ossification evident 2-8 months following swelling | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ossification occurs spontaneously during childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ossification occurs spontaneously during childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:other half show head circumference more retarded than height ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:other half show head circumference more retarded than height | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:other muscle become involved about 5 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:other muscle become involved about 5 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:other tumors may also occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:other tumors may also occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overall course less severe compared to patients with cfh (134370) mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overall prevalence is between 0.5 and 14 per 100,000 people per year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlap with obsessive-compulsive disorder (ocd, 164230) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlap with tourette syndrome (137580) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlap with tourette syndrome (137580) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlapping clinical spectrum and allelic to masa syndrome (303350) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlapping features of digeorge syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlapping features of digeorge syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlapping features with barber-say syndrome (209885) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlapping features with barber-say syndrome (209885) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pain in lower limb ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pain in lower limb | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pain is noted to feel cold ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pain is noted to feel cold | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pain is relieved by antiinflammatory medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pain is relieved by antiinflammatory medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pain most commonly affects the trunk, extremities, pelvic region, buttocks ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pain tends to occur later in the day ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pain tends to occur later in the day | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:painful cramping following ischemic exercise test ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:painful cramping following ischemic exercise test | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pancreatic endocrine abnormalities reported in 1 family only ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pancreatic endocrine abnormalities reported in 1 family only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:part of 'dent disease complex' ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:part of 'dent disease complex' | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:part of 'dent disease complex' (see 300009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:part of 'dent disease complex' (see 300009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:partial factor viii deficiency in heterozygous carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:partial laminin alpha-2 deficiency results in milder phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:partial or absent response to steroid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:partial or absent response to steroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:partially responsive to laser treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:partially responsive to laser treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:paternal age effect ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:paternal age effect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:paternal anticipation bias ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:paternal anticipation bias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic alleles contain 52 to 86 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic alleles contain 71 to 1,300 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic alleles contain 75-11,000 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic alleles contain greater than 41 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic alleles have 19 to 33 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pathogenic cag repeat length is 51 to 78 triplets ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patient b had a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patient b had a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patient satisfaction with healthcare delivery:score:pt:^patient:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patient with truncating mutations are more likely to develop neurologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients achieve ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients achieve ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are 46,xy individuals who may be phenotypically female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are 46,xy individuals who may be phenotypically female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are born with normal head circumference ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are born with normal head circumference | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are often asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are often asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are often misdiagnosed with spherocytosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are often misdiagnosed with spherocytosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are often of mediterranean origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are often of mediterranean origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are prone to impaired thermoregulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are prone to impaired thermoregulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are severely disabled as adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are severely disabled as adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are susceptible to sepsis and dehydration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are susceptible to sepsis and dehydration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients become wheelchair-bound about 10 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients become wheelchair-bound as adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients become wheelchair-bound as adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients between 30 and 60 years have discomfort with prolonged standing ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients can be divided into 2 groups based on whether typical hand anomalies are present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients can have als, ftd, or both ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients can have als, ftd, or both | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients can have multiple seizure types ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients can have multiple seizure types | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients develop acute symptoms under physiologic stress due to illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients develop acute symptoms under physiologic stress due to illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients develop aortic dissection with little or no aortic enlargement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients develop multiple tumors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients develop multiple tumors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients die in infancy due to infectious complications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients die in infancy due to infectious complications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients do not exhibit ophthalmoplegia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients do not exhibit ophthalmoplegia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients do not exhibit skin pigmentation changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients do not exhibit skin pigmentation changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients do not have clinical hypothyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients do not have clinical hypothyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients do not have ectopia lentis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients do not have ectopia lentis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients exhibit no signs of ocular or cutaneous albinism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients from 4 unrelated families have been reported (as of october 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients from old order amish community and turkey have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients from old order amish community and turkey have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients gradually develop tolerance to carbohydrates over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have a distinctive shallow u-shaped audiogram ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have no abnormalities of hair, teeth, or bone ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have normal levels of vitamin a, beta-carotene, and zinc ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have normal pituitary function ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have normal pituitary function | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients have severe anemia requiring regular transfusions for normal activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients look as if they have protein deficiency or malnutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may be asymptomatic, but are at risk for metabolic decompensation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may become totally dependent for all activities of daily living ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may become totally dependent for all activities of daily living | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may become ventilator-dependent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may become ventilator-dependent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may become wheelchair-bound after about 12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may become wheelchair-bound after about 12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may become wheelchair-bound as adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may become wheelchair-bound as adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have benign course until late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have benign course until late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have either dementia or motor neuron disease or both ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have either dementia or motor neuron disease or both | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have recurrent infections due to immunosuppressive therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may have seizures only, dyskinesia only, or both ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may or may not have dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may or may not have dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may present with autoimmune features or primary immunodeficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may present with either renal or neurologic symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may present with either renal or neurologic symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may present with recurrent illnesses or infections, or shock ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may require implantable cardioverter defibrillators ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may require implantable cardioverter defibrillators | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may show both optic neuropathy and dystonia or only 1 disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may show intermittent signs of improvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may show intermittent signs of improvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients may show normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients may show normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients need lifelong total parenteral nutrition ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients need lifelong total parenteral nutrition | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients need support with walking or are wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients need support with walking or are wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients of brazilian origin have a pure cerebellar atrophy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often become wheelchair-bound 3 to 4 decades after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often have a more severe and complicated phenotype in addition to peo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often nonambulatory by the mid-twenties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often nonambulatory by the mid-twenties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often require cardiac transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often require cardiac transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients often require implantation of a pacemaker ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients often require implantation of a pacemaker | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients older than 60 years have severe degenerative arthritis in the feet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients present at birth with respiratory distress or poor head control ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients present at birth with respiratory distress or poor head control | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients present with groin pain ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients present with groin pain | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients remain ambulatory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients remain ambulatory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients require achilles tendon lengthening in first or second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients retain ambulation even after long disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients retain ambulation even after long disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients show sorbitol and glycerol intolerance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients show sorbitol and glycerol intolerance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients usually require total thyroidectomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients usually require total thyroidectomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients walk on tips of toes with dorsal foot deviated laterally ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients who acquire ability to walk may lose it ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients who acquire ability to walk may lose it | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with adult onset present with psychiatric features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with adult onset present with psychiatric features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with atypical form have milder disease, with onset in the first months of life and increased survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with contiguous gene deletion of 8q24 have more severe features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with homozygous mutations have a more severe disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with homozygous mutations have a more severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with later onset do not have dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with later onset do not have dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with later onset have better prognosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with later onset have better prognosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with longer disease duration show motor neuron involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with longer disease duration show motor neuron involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with meb have less severe features and longer survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with meb have less severe features and longer survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with meb may acquire ability to walk and a few words ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with meb may acquire ability to walk and a few words | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with medication-resistant hypertension require bilateral adrenalectomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with mutation in the nhlrc1 gene have slightly longer survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with null mutations have neonatal onset within 72 hours of birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with recessive mutations have a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with recessive mutations have a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with residual enzyme activity have childhood or adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with t2 deficiency and urinary abnormalities may be asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with the autosomal recessive disorder have a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with total c4 deficiency are homozygous for double null c4 haplotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:patients younger than 30 years complain only that they cannot run fast ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pavm more frequent in hht1 than hht2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pavm more frequent in hht1 than hht2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:peak age of onset in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:peak age of onset in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:peak age of onset in second decade (range childhood to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:peak age of onset in second decade (range childhood to 76 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pectus carinatum present in obligate carrier mothers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pectus carinatum present in obligate carrier mothers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pedigrees compatible with autosomal dominant inheritance have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:penetrance 86% by 50 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance 86% by 50 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:penetrance is usually complete by age 65 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance is usually complete by age 65 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:penetrance of disease is complete between 30 and 40 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:peo is not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:peo is not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:percentages based on review of 51 published cases (pmid 24891339) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:performing laboratory medical director:id:pt:facility:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:performing laboratory name:identifier:point in time:facility:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:performing laboratory phone:tele:pt:facility:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:performing laboratory:addr:pt:facility:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:performing laboratory:addr:pt:facility:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:perinatal death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:perinatal death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:perinatal lethal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:perinatal lethal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:perinatal lethality ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:perinatal lethality | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:periodontium is less severely affected than in papillon-lefevre syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:peripheral neuropathy occurs in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:peripheral neuropathy occurs in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:periventricular heterotopia (300049) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:persistence of febrile seizures beyond age 6 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:persistence of febrile seizures beyond age 6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:persistent bleeding after injury or surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:persistent bleeding after injury or surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:persistent bleeding after trauma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:persistent bleeding after trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:persistent exposure to fructose leads to chronic liver and kidney complications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype is classically defined as aplasia cutis and transverse limb defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype is worsened by cold temperature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype is worsened by cold temperature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype may be exacerbated by maltreatment in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype may be influenced by maternal alcohol consumption during pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype may or may not be consistent within a family. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype may or may not be consistent within a family. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic heterogeneity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic heterogeneity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with currarino syndrome (176450) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with cytochrome c oxidase deficiency (220110) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with denys-drash syndrome (194080). ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with desbuquois dysplasia (251450) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with fhm1 (141500) and sca6 (183086) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with frontotemporal dementia (600274) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with parkinson disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with parkinson disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with revesz syndrome (268130) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic similarities to angelman syndrome (105830) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic similarities to costello syndrome (218040) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic similarities to leigh syndrome (256000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic similarities to noonan syndrome (163950) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variability within families and among patients carrying the same mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variability, intrafamilial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variability, intrafamilial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variation (may affect language expression, reception, and/or articulation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypic variation in severity and symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypic variation in severity and symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypically indistinguishable from hemophilia a (306700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:phenotypically mild form of joubert syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:phenotypically mild form of joubert syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:physical features are apparent at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:physical features are apparent at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pigment does not develop with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pigment does not develop with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pigmentary abnormalities apparent at birth or in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pigmented spots appear in infancy through childhood and fade in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:plantar contractures become apparent with onset of ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:plantar contractures become apparent with onset of ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:plasma cholinesterase measurement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:plasma cholinesterase measurement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pneumocytosis carinii infection (12 to 42%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poland syndrome can be associated with moebius syndrome (157900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:polg mutations account for approximately 45% of all peo cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:polyhydramnios ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:polyhydramnios | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:polyps occur in teens ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:polyps occur in teens | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor or no response to glucocorticoid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor or no response to glucocorticoid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor outcome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor outcome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to acetylcholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to acetylcholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to acetylcholinesterase inhibitors or cholinergic agents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to g-csf treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to g-csf treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to l-dopa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to l-dopa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to levodopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to levodopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:poor response to the c5 inhibitor eculizumab ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:poor response to the c5 inhibitor eculizumab | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:positive family history in 12-33% patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:positive family history in 12-33% patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:positive response to treatment with growth hormone ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:positive response to treatment with growth hormone | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible autosomal dominant (165199) and autosomal recessive (258650) forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible defect of a specific lipase in the pathway of free fatty acid oxidation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible favorable response to ketogenic diet ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible favorable response to ketogenic diet | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible genetic heterogeneity (linkage to xp22 in some families) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible gonadal mosaicism in one report ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible gonadal mosaicism in one report | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible increase of aneuploidy in offspring ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible increase of aneuploidy in offspring | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible x-linked dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible x-linked dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible x-linked inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible x-linked inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possible x-linked recessive inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possible x-linked recessive inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possibly allelic to cohen syndrome (216550) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possibly allelic to cohen syndrome (216550) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:possibly x-linked recessive inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:possibly x-linked recessive inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:postlingual onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:postlingual onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:preaxial involvement in approximately 60% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:preaxial involvement in approximately 60% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by fatigue or alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by fatigue or alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by febrile illness and fasting ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by febrile illness and fasting | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by fever ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by fever | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by general anesthesia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by general anesthesia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by infection, fasting, or intercurrent illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by mechanical compression or pressure on nerve ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitated by sleep deprivation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitated by sleep deprivation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitating factors - ingestion of wheat gluten, rye, and/or barley ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:precipitating factors include viral illness and pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:precipitating factors include viral illness and pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:predisposition to neoplasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:predisposition to neoplasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:predominantly occurs in young males with a high rate of atopic disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:predominantly occurs in young males with high rate of atopic disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:preferably treated with iodine supplementation rather than thyroid hormone replacement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prelingual onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prelingual onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prelingual onset in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prelingual onset in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:premature aging syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:premature aging syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:premature death may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:premature death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal diagnosis available ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal diagnosis available | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal diagnosis by ultrasound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal diagnosis by ultrasound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal history of maternal diabetes in 35% of cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal onset or onset at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal onset or onset at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal onset or onset in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal onset or onset in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal or neonatal onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal or neonatal onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal or perinatal death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal or perinatal death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prenatal or perinatal lethality in hemizygous males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:preponderance of affected females (80%) to males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:preponderance of affected females (80%) to males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presence of additional features is variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presence of additional features is variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:present at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:present at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:present in infancy in all affected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:present in infancy in all affected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:present in jewish yemenite population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:present in jewish yemenite population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation after 18 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation after 18 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation after 6 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation after 6 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation at 3-6 weeks of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation at 3-6 weeks of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation between 6-18 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation between 6-18 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in childhood includes waddling gait and knee pain/stiffness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presenting symptoms in the upper body ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presenting symptoms in the upper body | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents as early-onset strokes in 43% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents as early-onset strokes in 43% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents at 2 to 3 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents at 2 to 3 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents at a later age than sporadic wilms tumor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents at a later age than sporadic wilms tumor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents at a later stage than sporadic wilms tumor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents at a later stage than sporadic wilms tumor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents at birth or early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents at birth or early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:presumed autosomal dominant with incomplete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence 1 in 1,250 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence 1 in 1,250 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence 1 in 8000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence 1 in 8000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence 1-2% in northern european populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence 1-2% in northern european populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence 1/10,000-1/15,000 female births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence approximately 1 in 4,000 males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence approximately 1 in 4,000 males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence estimated at 1 in 50,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence estimated at 1 in 50,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence estimated at 1 in 86,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence estimated at 1 in 86,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in caucasians is 1 in 1,000,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in finland is 1 in 25,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in finland is 1 in 25,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in norway is 1 in 80,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in norway is 1 in 80,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in poland is 1 in 129,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in poland is 1 in 129,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in sardinia is 1 in 14,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in slovenia is 1 in 43,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in taiwan is 1 in 132,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence in the finnish population of 5.8 per million ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence in the finnish population of 5.8 per million | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence is estimated to be 1 in 1,100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence is estimated to be 1 in 150,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence much higher in whites than blacks ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence much higher in whites than blacks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 0.5 to 1 in 1,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 0.6 to 10 per 100,000 individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 1,429 in tanzania ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 1,500 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 1,500 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 10,000 african-americans ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 10,000 african-americans | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 10,000 caucasians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 10,000 caucasians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 150 to 1 in 1,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 150,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 150,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 2,833 in zimbabwe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 200,000 to 1 in 800,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 227 hopi indians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 227 hopi indians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 240 zuni indians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 240 zuni indians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 28,000 african-americans ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 28,000 african-americans | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 28,000 caucasians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 28,000 caucasians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 3,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 3,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 3,900 in south africa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 3,900 in south africa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 30,000 in northern europe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 300,000 in quebec ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 300,000 in quebec | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 40,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 40,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 40,000 among caucasians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 40,000 to 1 in 80,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 50,000-70,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 6,000 to 1 in 10,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 7,900 in cameroon ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 1 in 70,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 1 in 70,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 19 in 1,000,000 in sweden ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 2-7% in english-speaking preschool children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of 7 in 100,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of 7 in 100,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of approximately 1 in 2000 individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of essential tremor ranges from 0.4 to 6% in the general population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of in 1 in 8,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of in 1 in 8,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of sleep terrors about 3% in children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of sleep terrors about 3% in children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of sleep terrors less than 1% in adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of sleepwalking about 3% in adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of sleepwalking about 3% in adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of sleepwalking up to 26% in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence of true hypoprothrombinemia is 1 in 2 million ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence ranges from 1 in 12,000 to 1 in 50,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalence rates average 10-20% of the general population over age 60 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent among individuals of east asian descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent among individuals of east asian descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent among patients of asian descent, particularly japanese ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent among the amish ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent among the amish | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in arabic, turkish, armenian, and sephardic jewish populations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in ashkenazi jews ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in ashkenazi jews | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in bulgarian gypsies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in bulgarian gypsies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in newfoundland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in newfoundland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in north africa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in north africa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in quebec ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in quebec | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in sweden ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in sweden | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prevalent in the old order amish in the u.s. and in finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:primarily diagnosed in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:primarily diagnosed in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:primary teeth affected greater than secondary teeth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:primary teeth affected greater than secondary teeth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:profound dementia and death usually occurs by age 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:profound dementia and death usually occurs by age 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prognosis good ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prognosis good | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progresses through puberty, then stabilizes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progresses through puberty, then stabilizes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progresses to involve upper limbs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progresses to involve upper limbs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression more frequent in men than women ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression more frequent in men than women | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression of phenotype with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression of phenotype with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression of the disorder is precipitated by viral symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progression to profound hearing loss affecting all frequencies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progression to profound hearing loss affecting all frequencies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive cerebellar ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive cerebellar ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive clinical course with onset in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive clinical course with onset in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive deafness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive deafness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disease is seen in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disease is seen in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disease with onset in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disease with onset in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder due to secondary myopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder due to secondary myopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder regarding both neurologic and renal symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder that may become stable in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder that may become stable in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder, usually with rapid, relentless course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder, usually with rapid, relentless course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive disorder, with older patients exhibiting more severe symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive neurologic deterioration if untreated ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive neurologic deterioration if untreated | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive or slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive or slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive renal disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive renal disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive sclerosis with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive sclerosis with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive skeletal dysplasia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive skeletal dysplasia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:progressive, with full manifestations at puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:progressive, with full manifestations at puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:prominent psychiatric symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:prominent psychiatric symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:protein c deficiency is found in 3-4% of patients with venous thromboembolism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:protein s deficiency is found in 2-3% of patients with thromboembolism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:protracted course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:protracted course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:protracted disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:protracted disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:provoked by crying or emotional upset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:provoked by crying or emotional upset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pseudomembrane formation triggered by injury, infection, irritation, surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:psychiatric symptoms may be the presenting sign ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:psychiatric symptoms may be the presenting sign | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:psychomotor delay may already be apparent at onset of seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ptosis is usually presenting feature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ptosis is usually presenting feature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pulsatile headache lasts hours to days ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pulsatile headache lasts hours to days | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pyogenic arthritis, pyoderma gangrenosum and acne ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:pyridoxine responsive individuals often have milder manifestations than those not responsive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:radioresistant dna synthesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:radioresistant dna synthesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:range of onset 11 to 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:range of onset 11 to 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapid disease progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapid disease progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapid disease progression from ages 40 to 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapid disease progression from ages 40 to 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapid progression in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapid progression in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapid progression to disability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapid progression to disability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive (6-24 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive (6-24 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive deterioration (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive deterioration (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive neonatal onset with early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive neonatal onset with early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive to persistent vegetative state or death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive to persistent vegetative state or death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare adult cases reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare adult cases reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare autosomal dominant inheritance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare autosomal dominant inheritance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare patients with homozygous null mutations have most severe disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare spontaneous improvement occurs (8%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare spontaneous improvement occurs (8%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rare survival to teens ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rare survival to teens | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rarely produces clinical jaundice ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rarely produces clinical jaundice | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rarely reported in infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rarely reported in infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rarely, patients may be asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rarely, patients may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rash, edema, and arthralgia may occur during crisis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ratio female to male, 19:10 in index family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ratio female to male, 19:10 in index family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reason for lab test:type:pt:bld.dot:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recessive inheritance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recessive inheritance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recessive inheritance is rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recessive inheritance is rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrence is possible ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrence is possible | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrence of symptoms after cholecystectomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrence of symptoms after cholecystectomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent acute episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent acute episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent bacterial infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent bacterial infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent bacterial infections beginning in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent bacterial infections beginning in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent bacterial infections with onset in the first or second year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent bacterial, viral, and fungal infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent bacterial, viral, and fungal infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced exercise tolerance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced exercise tolerance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced fertility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced fertility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced fetal movement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced fetal movement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced life expectancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced life expectancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced life expectancy, death by 10 years of age in 70% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced longevity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced longevity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance (75%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance (75%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance (89%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance (89%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance (about 60%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance (about 60%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance (approximately 54%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance (approximately 54%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance (approximately 87%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance (approximately 87%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance in females ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance in females | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test identifier:id:xxx:reference lab test:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test method:type:time reported elsewhere:reference lab test:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test name:type:time reported elsewhere:reference lab test:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:regional, racial, and ethnic clustering has been noted ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:regional, racial, and ethnic clustering has been noted | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:regression in infancy (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:regression in infancy (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relapsing-remitting course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relapsing-remitting course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relationship of rare neuropsychiatric signs to histidinemia is unclear ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatively benign course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively benign course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatively benign course after acute episodes in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively benign course after acute episodes in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatively mild course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively mild course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatively mild cutis laxa, associated with severe vascular abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatively slow progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatively slow progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relatives with multiple small congenital pigmented nevi ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relatives with multiple small congenital pigmented nevi | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:relief is achieved by cooling or by elevating the extremities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:renal anomalies are not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:renal anomalies are not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:renal dysfunction normalizes in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:renal dysfunction normalizes in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:renal failure in second or third decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:renal failure in second or third decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:renal involvement and coloboma may not be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:renal involvement and coloboma may not be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:repeat is unstable if > 52 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:repeat is unstable if > 52 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:repeat tracts may expand as patient ages (somatic instability) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported cases all sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported cases all sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in 1 family (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in 1 family (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in 2 sibs (february 1991) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in 2 sibs (february 1991) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in a large hutterite family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in a large hutterite family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in individuals of amish or mennonite descent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in individuals of amish or mennonite descent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in individuals of french canadian origin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in individuals of french canadian origin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in individuals of jewish moroccan ancestry ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in individuals of jewish moroccan ancestry | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in individuals of sephardic jewish ancestry ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in individuals of sephardic jewish ancestry | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported in the ohio amish anabaptist community ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported in the ohio amish anabaptist community | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reported patients are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reported patients are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:resembles intrauterine torch infection but without intrauterine infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:resembles pseudo-torch syndrome (251290) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:resembles pseudo-torch syndrome (251290) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:residual neurologic deficits are slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:residual neurologic deficits are slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:resource identifier:uri:pt:study:nom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:resource identifier:uri:pt:study:nom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:respiratory distress may be precipitated by viral respiratory infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:response to acetazolamide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:response to acetazolamide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:response to benadryl (diphenhydramine) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:response to benadryl (diphenhydramine) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:response to zinc supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:response to zinc supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:responsive to high-dose biotin or biotin/thiamine treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:responsive to oral mannose therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:responsive to oral mannose therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:responsive to thiazide diuretics ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:responsive to thiazide diuretics | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:responsive to treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:responsive to treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:responsive to vitamin b12 therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:responsive to vitamin b12 therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:results in severe motor disability and loss of independent ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:results in severe motor disability and loss of independent ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:reticulate hyperpigmentation onset birth - 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:retinal arteriolar tortuosity develops in adolescence and is progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:retinal degeneration not always present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinal degeneration not always present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:retinal hemorrhages usually resolve without sequelae ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:rickets and premature primary tooth loss occur in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:right side affected greater than left side ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:right side affected greater than left side | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk haplotype found in dutch families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk haplotype found in dutch families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of affected offspring in maternal translocation carrier - 4-10% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of affected offspring in paternal translocation carrier - 0-7% ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of death due to cardiac dysfunction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of death due to cardiac dysfunction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of sudden death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of sudden death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of sudden death due to cardiac arrhythmias ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of sudden death due to cardiac defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of sudden death due to cardiac defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of sudden death in childhood due to cardiac arrest ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of sudden death with exertion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of sudden death with exertion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:risk of thromboembolic stroke ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:risk of thromboembolic stroke | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sando (607459) is a phenotypic variant of autosomal recessive peo ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:scalp hair quality improves during pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:scalp hair quality improves during pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seasonal variation in severity of skin symptoms reported by some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:second most common form of usher syndrome type i ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:second most common form of usher syndrome type i | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:secondary features include arterial hypertension and renal involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:secondary features include arterial hypertension and renal involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:secondary hemorrhage ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:secondary hemorrhage | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:secondary prevention, avoid smoking, alcohol, and oxidants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:secondary tumors develop within the skin lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:secondary tumors develop within the skin lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:secretory diarrhea begins prenatally ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:secretory diarrhea begins prenatally | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see (277600) for a phenotypically similar autosomal recessive form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see (608328) for a phenotypically similar autosomal dominant form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 177850 for description of heterozygous phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 177850 for description of heterozygous phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 255160 for an autosomal recessive form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 255160 for an autosomal recessive form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 607731 for an autosomal recessive form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 607731 for an autosomal recessive form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see 609888 for a discussion on leprosy susceptibility ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also a childhood-onset form (114100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also a childhood-onset form (114100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also adult-onset stiff person syndrome (184850) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also an adult-onset form (213600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also an adult-onset form (213600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant form (128230) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant form (128230) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant form (160800), which is less common and less severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant form (176860) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant form (176860) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant giant axonal neuropathy (610100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant hypophosphatemic rickets (193100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant lutheran-null phenotype (111150) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant peoa1 (157640) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant peoa1 (157640) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant robinow syndrome (180700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal dominant sick sinus syndrome (163800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal form, 146450, and another x-linked form, 300633 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal form, 146450, and another x-linked form, 300758 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive familial mediterranean fever (fmf, 249100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive form (255700), which is more common and more severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive form (612304) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive form (612304) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive peob (258450) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive peob (258450) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive robinow syndrome (268310) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also autosomal recessive sick sinus syndrome (sss1, 608567) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also benign familial infantile convulsions (bfic1, 601764) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also benign neonatal epilepsy (ebn1, 121200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also cblc (277400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also cblc (277400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also cbld (277410) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also cbld (277410) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also chromosome 2q32-q33 deletion syndrome (612313) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also cmtx1 (302800) and cmt3x (302802) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also cmtx1 (302800) and cmtx2 (302801) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also congenital stiff person syndrome (149400) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also congenital stiff person syndrome (149400) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also da2b (601680), which is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also da2b (601680), which is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also dent disease 2 (300555) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also dent disease 2 (300555) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also distal hmn2a (158590) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also distal hmn2a (158590) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also dominant deb (131750), an allelic disorder with a less severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also dominant deb (131750), an allelic disorder with a similar phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also dyggve-melchior-clausen disease (223800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also dyssegmental dysplasia, silverman-handmaker type (224410) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also ecyt2 (263400) and ecyt3 (609820) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also erythrocytosis 1 (ecyt1, 133100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also facial hemihypertrophy (133900) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also facial hemihypertrophy (133900) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also familial developmental dysphasia (600117) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also familial developmental dysphasia (600117) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also febrile seizures (feb1, 121210) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also febrile seizures (feb1, 121210) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also french-canadian type of leigh syndrome (220111) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also gaucher disease type iii (231000), which is much less severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also griscelli syndrome type 2 (607624) for a similar disorder with characteristic immunologic abnormalities and ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also griscelli syndrome type 2 (607624) for a similar disorder with characteristic immunologic abnormalities and | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also hmn2b (608634) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also hmn2b (608634) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also infantile (600649) and late-onset (255110) cpt ii deficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also junctional eb with pyloric atresia (226730) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also later childhood-onset form (300718) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also later childhood-onset form (300718) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also lethal neonatal (608836) and adult forms (255110) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also mmab (251110) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also mmab (251110) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also more severe phenotype peeling skin syndrome (270300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also oca1a (203100) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also oca1a (203100) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also optic atrophy 1 (165500), an allelic disorder without deafness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also optic atrophy with deafness (125250), an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pachyonychia congenita, type 3 (pc1, 167200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also peeling skin syndrome, acral type (609796) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also perinatal lethal variant (608013), which is more severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pfm3 on chromosome 4q21-q23 (609566) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pgl1 (168000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pgl1 (168000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pseudohypoparathyroidism type ia (103580) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pseudohypoparathyroidism type ia (php1a, 103580) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also pseudopseudohypoparathyroidism (612463) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also recessive deb (226600), an allelic disorder with a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also severe, early-onset form (300717) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also severe, early-onset form (300717) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also simplex eb with pyloric atresia (612138) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also the autosomal recessive form (243000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also the autosomal recessive form (243000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also the lethal neonatal (608836) and infantile (600649) forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also the non-herlitz type of jeb (226650), a less severe disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also the x-linked form (300291) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also the x-linked form (300291) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also two x-linked forms 300633 and 300758 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also two x-linked forms 300633 and 300758 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked (310400) and autosomal dominant (160150) forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked dominant form (300652) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked dominant form (300652) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked edmd (310300) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked edmd (310300) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked leigh syndrome (312170) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked leigh syndrome (312170) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see cmt4a (214400) for autosomal recessive demyelinating forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see ebn1 (121200) for an autosomal dominant form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see entry 104300 for general information on alzheimer disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see entry 104300 for general information on alzheimer disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see recessive form optb4 (611490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see recessive form optb4 (611490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:see the more common methemoglobinemia types i and ii (250800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seen more frequently in infants of diabetic mothers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seen more frequently in infants of diabetic mothers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:segmental distribution often affecting 1 limb ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:segmental distribution often affecting 1 limb | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure frequency decreases during early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure frequency decreases during early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure onset after 3 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure onset after 3 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure onset at a mean of 14 months (range 6 to 36 months) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure onset between 3 and 11 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure onset between 3 and 11 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure onset in first months or years of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure onset in first months or years of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizure severity and frequency tend to improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizure severity and frequency tend to improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures and cognitive involvement are variable findings ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures and cognitive involvement are variable findings | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures and dystonia peak during childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures and dystonia peak during childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are easily controlled by medications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are easily controlled by medications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are fever-sensitive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are fever-sensitive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are followed by drowsiness in most cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are followed by drowsiness in most cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are often refractory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are often refractory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are poorly responsive to treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are poorly responsive to treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are provoked by immersion in hot or warm water ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are provoked by immersion in hot or warm water | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are refractory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are refractory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are refractory to medication ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are refractory to medication | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are refractory to treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are refractory to treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are responsive to pyridoxine treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are responsive to pyridoxine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are sensitive to hyperventilation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are sensitive to hyperventilation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are usually intractable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are usually intractable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are usually refractory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are usually refractory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures are usually refractory at first ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures are usually refractory at first | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures become nearly continuous ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures become nearly continuous | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures easily controlled by medications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures easily controlled by medications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures last about 30 seconds to 3 minutes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures last about 30 seconds to 3 minutes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may be refractory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may be refractory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may be refractory to treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may be refractory to treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may be triggered by infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may be triggered by infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may occur upon awakening or at any time during the day ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may occur upon awakening or at any time during the day | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may occur with illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may occur with illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may persist into adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may persist into adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may remit in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may remit in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may remit later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may remit later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures may remit with age (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures may remit with age (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures occur upon awakening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures occur upon awakening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures precipitated by fatigue or alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures precipitated by fatigue or alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures recur in 33% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures recur in 33% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures remit by age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures remit by age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures remit in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures remit in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures remit in later childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures remit in later childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures resolve by 4 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures resolve by 4 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures tend to become more focal with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures tend to become more focal with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures tend to occur upon awakening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures tend to occur upon awakening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures tend to remit later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures tend to remit later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures usually occur in the first months of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures usually occur in the first months of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures usually remit in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures usually remit in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures usually remit spontaneously by 12 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seizures, recurrent, refractory ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seizures, recurrent, refractory | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sensorineural hearing loss may be presenting feature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sensorineural hearing loss may be presenting feature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sensory loss is rapidly progressive and severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sensory loss is rapidly progressive and severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:serum triglycerides decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:serum triglycerides decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seven patients from 4 families in israel have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seven patients from 4 families in israel have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seven patients reported (as of march 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seven patients reported (as of march 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seventy percent of cases are stillborn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seventy percent of cases are stillborn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:seventy percent of cases have associated anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:seventy percent of cases have associated anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:several forms of autosomal recessive spastic paraplegia (see 270800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe ambulatory restriction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe ambulatory restriction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe clinical course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe clinical course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe epilepsy may lead to early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe epilepsy may lead to early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe form with onset at 3 to 4 months of age and severe developmental delay ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe hearing loss by age 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe hearing loss by age 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe heat intolerance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe heat intolerance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe hypertension develops in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe hypertension develops in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe infantile cases usually die by 6 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe infantile cases usually die by 6 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe infantile form presents before 6 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe infantile form presents before 6 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe infections in untreated patients with neutropenia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe infections in untreated patients with neutropenia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe involvement of legs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe involvement of legs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe neurodegenerative course resulting in a comatose state or death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe phenotype onset - neonate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe phenotype onset - neonate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe volume depletion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe volume depletion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severely affected individuals may carry 2 mutated alleles ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severity of clinical phenotype varies both within and between kindreds ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severity of hematologic disorder decreases with advancing age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severity of hematologic disorder decreases with advancing age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severity of phenotype is not related to residual enzyme activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severity of phenotype may vary with x-inactivation patterns and/or mutation type ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:severity of skin symptoms may vary within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:severity of skin symptoms may vary within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sex ratio - 2 females to 1 male ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sex ratio - 2 females to 1 male | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sex ratio - 2.3 males-to-1 female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sex ratio - 2.3 males-to-1 female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sex ratio of 4-4.5 males to 1 female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sexual infantilism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sexual infantilism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:shields classification - ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:shields classification - | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:short limbs become more apparent during childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:short limbs become more apparent during childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:short stepped shuffling gait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:short stepped shuffling gait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:short survival (less than 10 years after onset) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:short survival (less than 10 years after onset) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:short umbilical cord ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:short umbilical cord | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sib a developed symptoms after routine mmr vaccination ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sib a developed symptoms after routine mmr vaccination | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sib b did not receive mmr vaccination and was asymptomatic in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:significant clinical overlap with sotos syndrome (117550) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:significant number of patients are stillborn or die in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:significant phenotypic variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:significant phenotypic variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:signs and symptoms depend on tumor location and activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:signs and symptoms depend on tumor location and activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar clinical phenotype to edsiii (130020) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar clinical phenotype to edsiii (130020) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar to infantile neuroaxonal dystrophy (inad, 256600) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:simple febrile seizures usually remit by age 6 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:simple febrile seizures usually remit by age 6 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:single lesions in sporadic cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:single lesions in sporadic cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:single mitochondrial dna deletions are found in sporadic kss patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:single umbilical artery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:single umbilical artery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sister of affected male siblings had mild learning disabilities and obesity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six genetically confirmed patients have been reported (as of december 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients from 1 saudi arabian family have been reported (last curated december 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients from 4 families have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients have been reported (5/18/2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients have been reported (5/18/2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients have been reported (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients have been reported (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients have been reported (as of october 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients have been reported (as of october 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:six patients reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:six patients reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skeletal abnormalities are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skeletal abnormalities are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skeletal and endocrine features have not been fully characterized in all of the patients reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skeletal and facial features are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skeletal and facial features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skeletal features are variably present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skeletal features are variably present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skewed x-inactivation in carriers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skewed x-inactivation in carriers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin abnormalities can be present at birth or appear later in infancy or childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin abnormalities tend to decrease with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin abnormalities tend to decrease with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin and hair abnormalities apparent at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin and hair abnormalities apparent at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin appears normal at birth, with development of generalized ichthyosis in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin blistering and photosensitivity improve in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin changes are progressive in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin changes are progressive in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin changes have onset in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin changes have onset in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin erythroderma may resolve early, leaving atrophic lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesion appear shortly after birth and tend to disappear in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions are fully penetrant by second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions are fully penetrant by second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions are primarily trauma-induced but occasionally appear spontaneously ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions exacerbated by heat, exercise (sweating), and sunlight ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions improve in the summer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions improve in the summer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions manifest in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions manifest in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions on back, face, nape of neck, and waist tend to be mild ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions on back, face, nape of neck, and waist tend to be mild | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions resolve between 6 months and 2 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions tend to occur on distal extremities or at elbows and knees ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin lesions worsen with heat or sun exposure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin lesions worsen with heat or sun exposure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin manifestation less frequently observed in cold climates ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin manifestation less frequently observed in cold climates | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin manifestations may not be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin manifestations may not be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin neoplasia may appear later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin neoplasia may appear later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin peeling exacerbated by heat, friction, and humidity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:skin wrinkling improves with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:skin wrinkling improves with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slc25a4 mutations account for approximately 4% of all peo cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sleep disturbance or sleep apnea (obstructive, central, or mixed) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sleep terrors usually remit during adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sleep terrors usually remit during adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sleepwalking triggered by alcohol, sleep deprivation, stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sleepwalking usually remits in adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sleepwalking usually remits in adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slight increased risk for malignancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slight increased risk for malignancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slight male predominance (3:2) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slight male predominance (3:2) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slightly increased female:male ratio (1.4:1 to 2:1) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slow course of functional deterioration compared to severity of mri findings ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slow or nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slow or nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slow progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slow progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slow progression without marked disability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slow progression without marked disability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slow, progressive growth, then stable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slow, progressive growth, then stable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slowly or non-progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slowly or non-progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slowly or nonprogressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slowly or nonprogressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slowly progressive disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slowly progressive disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:slowly progressive or nonprogressive course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:slowly progressive or nonprogressive course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:small placenta ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:small placenta | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:smaller repeat lengths in younger generations (reverse anticipation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:solitary disease is more common in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:solitary disease is more common in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:somatic mosaicism has been observed in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:somatic mosaicism has been observed in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:somatic mutations occur in adrenal tumor tissue (601639.0001) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:somatic or germline mosaicism may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:somatic or germline mosaicism may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some affected family members are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some affected family members are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some affected individuals have normal subsequent development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some affected individuals have normal subsequent development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some carrier females have episodes of significant hyperammonemia in infancy or childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some carrier females have mild features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some carrier females have mild features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some carrier females may manifest mild symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some carrier females may manifest mild symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some familial occurrence, most de novo aberrations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some familial occurrence, most de novo aberrations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some families have axonal cmt (cmt2m) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some families have axonal cmt (cmt2m) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features are variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features are variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features are variable, even within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features are variable, even within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features are variably expressed ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features are variably expressed | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features are variably present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features are variably present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features may be progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features may be progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features may be variable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features may be variable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features not found in all patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features not found in all patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some female carriers are more mildly affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some female carriers are more mildly affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some female patients can conceive after administration of gonadotropins ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some female patients can conceive after administration of gonadotropins | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some females are affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some females are affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some heterozygotes may have increased urinary excretion of cystine and may develop stones ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some heterozygous carriers exhibit accelerated age-related hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some heterozygous carriers exhibit accelerated age-related hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some heterozygous carriers may have mild manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some heterozygous carriers may have mild manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some heterozygous cpt2 mutation carriers may be symptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some individuals may be clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some individuals may be clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some laboratory abnormalities may fluctuate or improve with time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some laboratory abnormalities may fluctuate or improve with time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some more severely affected patients may die in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some more severely affected patients may die in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some mutation carriers have mild features of frontonasal dysplasia (613451) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients acquire late ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients acquire late ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients are asymptomatic and detected only by newborn screening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients are asymptomatic and diagnosed incidentally ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients are asymptomatic and diagnosed incidentally | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients are clinically unaffected. ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients are clinically unaffected. | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients become bedridden ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients become bedridden | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients become wheelchair-bound in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients become wheelchair-bound in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients can attend special school ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients can attend special school | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients can be treated with large doses of vitamin d and calcium ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients can hold menial jobs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients can hold menial jobs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients carry heterozygous mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients carry heterozygous mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients develop diabetes mellitus as adolescents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients develop diabetes mellitus as adolescents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients develop ophthalmoplegia in middle age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients develop ophthalmoplegia in middle age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not achieve independent ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not achieve independent ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not develop renal failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not develop renal failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not develop stroke ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not develop stroke | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not have bone disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not have bone disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not have dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not have dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not have thin corpus callosum ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not have thin corpus callosum | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not manifest renal disease in the first decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not reach end-stage renal failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not reach end-stage renal failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients do not show neurologic abnormalities or dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients exhibit features of more than 1 type of cardiomyopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients exhibit features of more than 1 type of cardiomyopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients experience later reversal of hypogonadotropic hypogonadism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients experience respiratory infections in association with episodes of jaundice in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a crouzon-like appearance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a crouzon-like appearance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a milder nonprogressive phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a milder nonprogressive phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a secreted but biologically inactive mutant leptin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have a severe phenotype with neurologic manifestations beginning at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have additional neurologic involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have additional neurologic involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have an attenuated phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have an attenuated phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have asymptomatic hypocalcemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have asymptomatic hypocalcemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have cessation of seizures at a mean of 12 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have isolated cfeom ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have isolated cfeom | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have juvenile-onset myoclonic epilepsy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have later onset and more variable phenotype (mngie) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have later onset of the disorder as young adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have later onset of the disorder as young adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have lethal fetal akinesia with death in utero ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have lethal fetal akinesia with death in utero | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have milder persistent blistering ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have milder persistent blistering | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have no clinical symptoms and are detected by routine newborn screening ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have no manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have no manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have no neurologic abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have no neurologic abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have no or mild manifestations and normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have no or mild manifestations and normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have only ocular involvement or only oral involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have only ocular involvement or only oral involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have only plantar surface involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have only plantar surface involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have persistence of seizures to adulthood, but then show remission ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have resolution of symptoms in first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have resolution of symptoms in first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients have subclinical exocrine pancreatic deficiency ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may be asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may be asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may be asymptomatic and have only short telomeres ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may be asymptomatic and have only short telomeres | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may be clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may be clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may become bedridden 10 to 20 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may benefit from coenzyme q10 treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may develop concurrent failure to thrive and dyslipidemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may develop interictal progressive ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may develop interictal progressive ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may die from cardiomyopathy in the first or second decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have a milder phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have a milder phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have a more protracted disorder with neurodegeneration ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have isolated cardiac involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have isolated cardiac involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have isolated myokymia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have isolated myokymia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have normal brain imaging ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have normal brain imaging | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have normal development until onset of seizures in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have normal psychomotor development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have normal psychomotor development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may have residual muscle weakness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may have residual muscle weakness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may live to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may live to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may lose independent ambulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may lose independent ambulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may need surgery or renal transplant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may need surgery or renal transplant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may not achieve walking ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may not achieve walking | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may not have recurrent infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may not have recurrent infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may not present until adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may not present until adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may present with adult-onset small fiber neuropathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may present with myopathic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may present with myopathic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may respond to thiamine treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may respond to thiamine treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may show a favorable response to oral coenzyme q10 supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may show deterioration with infections ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show deterioration with infections | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may show mild decrease in head circumference over time ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show mild decrease in head circumference over time | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may show neurologic improvement late in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show neurologic improvement late in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients may show response to immunosuppressive agents ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients may show response to immunosuppressive agents | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients never achieve sitting ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients never achieve sitting | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients never achieve walking or running ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients never achieve walking or running | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients never gain ambulation or become wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients present with spasticity, whereas others present with cerebellar ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients report cyclical changes in severity of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients report cyclical changes in severity of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients report increased tolerance to heat ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients report increased tolerance to heat | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients report seasonal variation in symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients report seasonal variation in symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients require cardiac transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients require cardiac transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients require insulin for treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients require insulin for treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients respond to acetazolamide ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients respond to acetazolamide | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show a favorable response to sulfonylurea treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show delayed development from birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show delayed development from birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show improvement during summer or with fever ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show improvement during summer or with fever | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show improvement in muscle power in the teenage years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show improvement in muscle power in the teenage years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show infantile onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show infantile onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show no bleeding abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show no bleeding abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show normal development until onset of disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show normal development until onset of disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show onset in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show onset in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show onset later in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show onset later in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show rapid disease progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show rapid disease progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients show significant clinical improvement with riboflavin supplementation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients survive infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients survive infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients with advanced loss of vision have normal eog ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients with advanced loss of vision have normal eog | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients with heterozygous mutations may be symptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some pedigrees are consistent with autosomal dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some people with a cnnm2 mutation are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some people with a cnnm2 mutation are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some phenotypic overlap with rett syndrome (312750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some response to l-dopa therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some response to l-dopa therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sparing of some nails in some individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sparing of some nails in some individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spasticity is slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spasticity is slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spasticity occurs before parkinsonism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spasticity occurs before parkinsonism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spectrum of laterality defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spectrum of laterality defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spinal involvement improves with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spinal involvement improves with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spinal tumors are necessary for diagnosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spinal tumors are necessary for diagnosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:splenectomy increases thrombotic risk in these patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:splenectomy increases thrombotic risk in these patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous bleeding is rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous bleeding is rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous improvement or resolution of skin creases in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous improvement or resolution of skin creases in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous resolution by 12 months of age with no recurrence later in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous resolution of seizures by 12 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous resolution usually after 12 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous resolution usually after 12 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous resorption (rare) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous resorption (rare) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous reversal of gnrh deficiency may occur in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneous tumor regression may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneous tumor regression may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spontaneously resolves by 5 to 6 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sporadic cases often single lesions versus multiple lesions in familial cases ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sporadic occurrence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sporadic occurrence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sporadic occurrence is associated with advanced paternal age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:spots occur in 95% of patients but can be absent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:spots occur in 95% of patients but can be absent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stable or slowly progressive course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stable or slowly progressive course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stage ii, rapid developmental regression (onset 1-4 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stage iii, pseudostationary period (onset 2-10 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stage iv, late motor deterioration (when ambulation ceases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:static or slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:static or slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:static, nonprogressive disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:static, nonprogressive disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stillbirth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stillbirth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stillborn or death in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stillborn or death in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stillborn or death shortly after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stillborn or death shortly after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stillborn or infantile death usual in prenatal form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stillborn or infantile death usual in prenatal form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:stillborn or lethal in the neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:stillborn or lethal in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:striking intrafamilial variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:striking intrafamilial variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subclavian artery supply disruption in embryogenesis has been suggested as etiology ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subset of patients have cytochrome c oxidase deficiency (see 220110) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subset of patients have french-canadian leigh syndrome (220111) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subset of patients have leigh syndrome (256000) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subset of patients have leigh syndrome (256000) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtle facial phenotype compared to other types of hpe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtle facial phenotype compared to other types of hpe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtle personality and behavioral changes are presenting signs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtle personality and behavioral changes are presenting signs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtype 3a comprises myoclonus and dementia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtype 3a comprises myoclonus and dementia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtype 3c (231005) comprises cardiovascular calcifications ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:subtype of migraine with aura ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:subtype of migraine with aura | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:successful treatment with oral isotretinoin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:successful treatment with oral isotretinoin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden cardiac death frequent in affected families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden cardiac death frequent in affected families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden cardiac death in some families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden cardiac death in some families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death due to cardiac arrhythmia may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death due to cardiomyopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death due to cardiomyopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death in affected females occurs in the forties ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death in affected females occurs in the forties | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death in affected males occurs in teens ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death in affected males occurs in teens | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death secondary to impaction of medulla oblongata ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden death within first days of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden death within first days of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden infant death may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden infant death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:sudden infantile death may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:sudden infantile death may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:surgical intervention is not always curative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:surgical intervention is not always curative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival 30 to 40 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival 30 to 40 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival greater than one year rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival greater than one year rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival past infancy is rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival past infancy is rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival to 10 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival to 10 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival to 20 years in severe form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival to 20 years in severe form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival to 20s-60s in iib ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival to 20s-60s in iib | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival to 5-15 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival to 5-15 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survival to advanced age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survival to advanced age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:surviving infants develop severe nonbullous ichthyosiform erythroderma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survivors develop dysautonomia-like symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survivors develop dysautonomia-like symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:survivors may develop renal insufficiency and hepatic dysfunction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:susceptibility to infections start in the first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:susceptibility to infections start in the first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:susceptibility to infections starts in the first week of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:susceptibility to infections starts in the first week of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:swelling starts to fade by age 30 years and gradually becomes unremarkable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptom onset ranges from infancy to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptom onset ranges from infancy to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptomatic female carriers have been described in 1 japanese family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptomatic female carriers have been described in 1 japanese family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptomatic if > 200 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptomatic if > 200 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms ameliorate with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms ameliorate with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms appear in early childhood and are progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms appear in early childhood and are progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms are aggravated by febrile illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms are aggravated by febrile illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms are not apparent at rest ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms are not apparent at rest | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms are not relieved by alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms are not relieved by alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms are often responsive to alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms are often responsive to alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms are responsive to cobalamin treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms are responsive to cobalamin treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms begin focally, later segmental or generalized ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms begin focally, later segmental or generalized | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms benefit from sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms benefit from sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms can be prevented by strict dietary restriction ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms can be prevented by strict dietary restriction | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms develop immediately after birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms develop immediately after birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms improve during the summer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms improve during the summer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms improve following sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms improve following sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms improve with age, resulting in woolly hair with almost normal hair density ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms induced by strenuous exercise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms induced by strenuous exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms may be aggravated by acute illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms may be aggravated by acute illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms may be exacerbated by pregnancy or trauma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms may be precipitated by infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms may be precipitated by infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms may decrease after age 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms may decrease after age 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms noted at 2-3 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms noted at 2-3 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms occur only during sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms occur only during sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms of zinc deficiency occur only in exclusively breastfed infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms often decrease or remit with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms often decrease or remit with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms often improve gradually with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms often improve gradually with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by exercise and excitement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by exercise and excitement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by stress, exertion, fatigue, alcohol ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by sudden movement, stress, exertion, fatigue ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms precipitated by sudden movements ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms precipitated by sudden movements | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms present as acute metabolic and clinical decompensation associated with infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms present as acute metabolic and clinical decompensation associated with infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms progress with worsening myopathy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms progress with worsening myopathy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms relieved by ovarian suppression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms relieved by ovarian suppression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms relieved by progesterone antagonist (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms relieved by serotonin antagonist (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms remain focal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms remain focal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms resolve over weeks to months with usually no residual symptoms between attacks ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms show insidious onset in the late first through third decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms show insidious onset in the late first through third decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms tend to improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms tend to improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms typically begin in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms typically begin in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually appear in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually appear in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually induced only by strenuous exercise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually induced only by strenuous exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually last 30-60 minutes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually last 30-60 minutes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually occur in adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually occur in adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms usually resolve without treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms usually resolve without treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms vary according to location of tumor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms vary according to location of tumor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms vary from asymptomatic patients to patients with metabolic acidosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:symptoms worsen with fatigue and exercise ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:symptoms worsen with fatigue and exercise | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:syncope ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:syncope | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:systemic amyloid deposition may occur ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:systemic amyloid deposition may occur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:systemic granulomatous disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:systemic granulomatous disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:systemic iron overload due to ineffective erythropoiesis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:t-cell lymphopenia is more severe early in life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:t-cell lymphopenia is more severe early in life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:teeth may undergo post-eruptive changes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:teeth may undergo post-eruptive changes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:telangiectases persist in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:telangiectases persist in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:telangiectasia become evident between the second and eighth year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:temperature instability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:temperature instability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tendency to lighter pigmentation than unaffected relatives ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the characteristic changes in the spine resolve by adolescence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the frequency is estimated at 1/20,000 to 1/50,000 births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the lower the s-ado:saicar ratio, the more severe the phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the lower the s-ado:saicar ratio, the more severe the phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the most studied group is efe pygmies from ituri forest in northeast zaire ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:therapy-induced dyskinesias ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:therapy-induced dyskinesias | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:there are several subtypes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:there are several subtypes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thiamine supplementation may be beneficial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thiamine supplementation may be beneficial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thin, fine hair described in few individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thin, fine hair described in few individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:this patient died at age 2 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:this patient died at age 2 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:this patient died at age 8 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:this patient died at age 8 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:this specific disorder has been described in 1 family (ke) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:this specific disorder has been described in 1 family (ke) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thoracic abnormalities tend to improve with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thoracic abnormalities tend to improve with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thorax anomaly ameliorates with age (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:those with intermediate repeat expansions show reduced penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three affected sibs have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three affected sibs have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three amish patients have been reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three amish patients have been reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families described (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families described (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (as of 28 june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (as of 28 june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (as of december 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (as of december 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (as of september 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (as of september 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (last curated april 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (last curated april 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (last curated august 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (last curated august 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (last curated november 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (last curated november 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families have been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families have been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three families of ashkenazi jewish descent have been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three forms of cjd: acquired (including variant), sporadic, and inherited ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three girls from 2 unrelated families have been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three main clinical forms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three main clinical forms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three main phenotypes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three main phenotypes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three major clinical forms are apparent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three major clinical forms are apparent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three males in 1 family have been reported (last curated august 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three out of 4 reported patients died (last curated may 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three out of 4 reported patients died (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients (2 related) reported (last curated march 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients from 1 french canadian family have been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients from 1 mexican family has been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients from 2 families have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients from 2 unrelated families have been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients from 2 unrelated families have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients from 2 unrelated families have been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients from 2 unrelated families have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been described (last curated january 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been described (last curated january 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported (as of november 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported (as of november 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported (as of october 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported (as of october 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients reported, one with a wdpcp mutation (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three sibs in one consanguineous iranian family have been described (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three times more common in males ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three times more common in males | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three types of cystinosis are recognized ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three types of cystinosis are recognized | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated caucasian patients have been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (as of june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (as of june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated june 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated families have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated families have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated french families have been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated french families have been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated girls have been reported (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated males have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated males have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated january 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients have been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three unrelated probands have been reported (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three unrelated probands have been reported (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thromboembolism is the most common cause of death ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thromboembolism is the most common cause of death | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:thyroid carcinoma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:thyroid carcinoma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:time of analysis:tmstp:pt:xxx:qn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:toe-walking gait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:toe-walking gait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tooth agenesis ranges from 1 missing tooth to marked oligodontia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:torso and upper body remain normal in shape and contour ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:torso and upper body remain normal in shape and contour | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:trauma may accelerate symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:trauma may accelerate symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:trauma, anxiety, and/or stress can precipitate or aggravate edema ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:trauma, im injection, surgery can be foci of ectopic ossification ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with betaine, especially for pyridoxine nonresponders ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with bh4 is effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with bh4 is effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with coq10 may result in some clinical improvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with coq10 may result in some clinical improvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with dichloroacetate (dca) prolongs survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with enzyme replacement therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with enzyme replacement therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with folinic acid offers some benefit for anemia and seizure control ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with levodopa is not effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with levodopa is not effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with oral coenzyme q may ameliorate symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with riboflavin has been helpful in some patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with riboflavin has been helpful in some patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with serine and glycine replacement may alleviate features if started at birth ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with tnf inhibitors may be beneficial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with tnf inhibitors may be beneficial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:treatment with vitamin d and phosphate is effective ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:treatment with vitamin d and phosphate is effective | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tremor is aggravated by emotional stress ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tremor is aggravated by emotional stress | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tremor is aggravated by low glucose or light ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tremor is aggravated by low glucose or light | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tremor may be elicited by movement or postural maintenance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tremor may be elicited by movement or postural maintenance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tremors develop after seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tremors develop after seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:triggered by exercise, fasting, or other metabolic stresses ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:triggered by minor head trauma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:triggered by minor head trauma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:triggers are variable, even within a family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:triggers are variable, even within a family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:truncating mutations in crebbp found in 10% of patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tumor predisposition syndrome ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tumor predisposition syndrome | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tumor suppressor genes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tumor suppressor genes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tumors are microsatellite stable ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tumors are microsatellite stable | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tumors may show spontaneous regression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tumors may show spontaneous regression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:tumors usually develop between 40 and 60 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:tumors usually develop between 40 and 60 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:twelve or more lesions per eye in individuals over 60 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:twenty-five percent of affected babies are stillborn ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:twenty-five percent of affected babies are stillborn | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:twinning due to superfetation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:twinning due to superfetation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two adult sibs have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two adult sibs have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two affected females have been reported (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two affected females have been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two affected sibs have been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two arab muslim families have been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two autosomal dominant families have been reported (as of may 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two brothers in a french family have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two brothers in a french family have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two chinese sisters and one chinese woman have been described (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous families with 2 patients each have been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous lebanese families have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous lebanese families have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous pakistan families have been described ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous pakistan families have been described | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous turkish families have been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two consanguineous turkish families have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families described (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families described (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families described (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families described (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families each with two affected children have been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families each with two affected children have been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (as of 6/2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (as of 6/2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (as of curation date april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (as of curation date april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (as of june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (as of june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (as of may 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (as of may 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated december 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated december 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated december 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated december 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families have been reported (september 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families have been reported (september 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families of canadian origin have been reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families of french-canadian origin have been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families reported (last curated february 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families reported (last curated february 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families reported (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families reported (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two families with different phenotypes have been reported (as of september 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two fetuses have been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two fetuses have been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two forms: iia (severe) and iib (mild) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two forms: iia (severe) and iib (mild) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two japanese brothers have been reported (as of september 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two japanese families have been reported (as of february 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two japanese families have been reported (as of february 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two japanese patients have been reported (last curated march 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two jordanian sibs have been reported (last curated november 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two loci control synthesis of c4, c4a (120810) and c4b (120820) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two loci described - eec1 (129900) and eec3 (604292) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two main phenotypes, metabolic and neurologic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two main phenotypes, metabolic and neurologic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two main phenotypes, severe and mild ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two main phenotypes, severe and mild | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two main presentations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two main presentations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two mother and child pairs have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two mother and child pairs have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two of 3 patients became wheelchair-bound ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two of 3 patients became wheelchair-bound | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two of 6 patients became wheelchair-bound by age 20 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two pakistani families have been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two pakistani families reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two pakistani families reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients from 1 italian family have been reported (as of april 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients from spain have been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients from spain have been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients have been reported (as of august 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients have been reported (as of august 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients have been reported (as of august 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients have been reported (as of august 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients in one ashkenzai jewish family described (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients reported (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients reported (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients required liver transplantation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients required liver transplantation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients with a wws phenotype have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients with a wws phenotype have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients with point mutations in rad21 have been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two patients without cardiomyopathy or cataracts have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two peaks of onset, childhood and adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two peaks of onset, childhood and adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two probands have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two probands have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two related patients have been reported (as of november 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two related patients have been reported (as of november 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two siblings of consanguineous turkish parents have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two siblings of consanguineous turkish parents have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs and an unrelated fetus have been reported (last curated february 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs died before 2 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs died before 2 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs have been reported (last curated july 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated july 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs have been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs have been reported (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs have been reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs have been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs have been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sibs, a boy and a girl, have been reported (as of july 2009) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sisters have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sisters have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sisters have been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sisters have been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two subtypes - seminoma and nonseminoma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two subtypes - seminoma and nonseminoma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two subtypes noninflammatory type a and inflammatory type b ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two subtypes, episodic (85% of patients) and chronic (15%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two thirds of patients are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two thirds of patients are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two types - lethal neonatal and less severe, late onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two types - lethal neonatal and less severe, late onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two types - severe infantile form (type i) and milder form (type ii) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated boys have been reported (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated boys have been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated chinese families have been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated chinese families have been reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated consanguineous families have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated consanguineous families have been reported (last curated january 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families have been reported (last curated january 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated consanguineous families have been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated consanguineous families have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated consanguineous families have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (as of july 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (as of july 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (as of october 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (as of october 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated august 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated august 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated december 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated december 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated february 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated july 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated june 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated june 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated march 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated march 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated may 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated may 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated november 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated november 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated november 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated november 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated october 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported (last curated september 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported (last curated september 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families have been reported to have hpca mutations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families have been reported to have hpca mutations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families of european descent have been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families of european descent have been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated girls reported (last curated october 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated girls reported (last curated october 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated individuals have been reported (last curated january 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated japanese families have been reported (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated japanese patients have been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated japanese patients have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated japanese patients have been reported (last curated may 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated men have been reported (last curated march 2016) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated men have been reported (last curated march 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients had multiple congenital anomalies and died in early infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients had multiple congenital anomalies and died in early infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (as of august 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (as of june 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (as of may 2011) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated april 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated april 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated april 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated april 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated december 2010) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated december 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated december 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated february 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated january 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated july 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated july 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated july 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated june 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated june 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated june 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated june 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated march 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated may 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated may 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated october 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated october 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated october 2015) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated october 2015) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported (last curated september 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients reported (last curated september 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients reported (last curated september 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with confirmed mutations have been reported (as of january 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with different phenotypes have been reported (as of march 2012) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with epileptic encephalopathy have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 1 - associated with osteogenesis imperfecta (125490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 1 porencephaly is usually unilateral and results from destructive lesions ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2 porencephaly is usually symmetrical and results from developmental malformation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2a is characterized by deficiency of high molecular weight monomers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2b is characterized by increased affinity for platelet glycoprotein 1b ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2cb is characterized by defective binding affinity for collagen types i and iii ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2n is characterized by decreased binding affinity for factor viii ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 2n shows autosomal recessive inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 2n shows autosomal recessive inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 3 - brandywine isolate opalescent dentin (125500) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type 3: craniosynostosis, early demise, sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type a characterized by progressive myoclonic epilepsy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type b characterized by dementia, motor disturbances, and facial dyskinesia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i has most severe manifestations by age 4-5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i has most severe manifestations by age 4-5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i is infantile-onset, severe ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i is infantile-onset, severe | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i onset at 8 to 15 months of age after normal development ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type ii is adult-onset (kanzaki disease, 609242) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type ii is progressive and leads to shortened lifespan ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type ii is progressive and leads to shortened lifespan | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type ii patients are usually japanese and have significant aprt activity (10-25%) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type iia tends to have more severe phenotype with earlier onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type iii is intermediate form ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type iii is intermediate form | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type iiia has both liver and muscle involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type iiia has both liver and muscle involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:type iiib liver involvement only (15% of all cases) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:type iiib liver involvement only (15% of all cases) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:types of psoriasis include - plaque, guttate, erythrodermic, pustular ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:typical attacks last from seconds to minutes, but longer occurrences have been reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:typical onset in adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:typical onset in adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:typically no physical features of albright hereditary osteodystrophy (aho) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:typically sporadic occurrence ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:typically sporadic occurrence | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:u-shaped pattern of temperature-dependent potassium flux (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:u.s. frequency higher in blacks than whites ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:u.s. frequency higher in blacks than whites | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ultrasound detection in second trimester of pregnancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ultrasound detection in second trimester of pregnancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:uncommon and rare features seen in the most severely affected patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:uncommon disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:uncommon disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:uniparental disomy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:uniparental disomy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:unusual cabbage-like odor ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:unusual cabbage-like odor | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:unusual skill with jigsaw puzzle ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:unusual skill with jigsaw puzzle | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:up to 50% of patients may have various additional congenital anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:up to 60% of female mutation carriers develop lobular breast cancer ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:upper limb involvement in first decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:upper limb involvement in first decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:upper limb involvement may occur later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:upper limb involvement may occur later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:upper limb involvement occur later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:upper limb involvement occur later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:upper limb involvement usually occurs later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:upper limb involvement usually occurs later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:upper urinary tract usually normal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:upper urinary tract usually normal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:urine turns dark on standing and alkalinization ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:urine turns dark on standing and alkalinization | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:ush3 cases account for 40% of all usher patients in finland ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usual age of onset in the 20s and 30s ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usual age of onset in the 20s and 30s | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usual onset before age 6 years and death by age 20 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usual onset before age 6 years and death by age 20 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usual onset under age 30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usual onset under age 30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually a manifestation of the carney complex (cnc1, 1609890) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually a sporadic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually a sporadic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually affects children ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually affects children | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually begins in feet and legs (peroneal distribution) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually death in utero or rarely in neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually death in utero or rarely in neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually fatal ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually fatal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually fatal by age 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually fatal by age 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually fatal in first 2 decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually fatal in first 2 decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually fatal in infancy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually fatal in infancy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually fatal within the first few weeks of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually fatal within the first few weeks of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually favorable response to treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually favorable response to treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually follows a static course or is slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually follows a static course or is slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually lethal in the neonatal period ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually lethal in the neonatal period | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually no increased fragility of hair ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually no increased fragility of hair | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually occurs in children younger than 5 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually occurs in children younger than 5 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually occurs in young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually occurs in young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually occurs in young adults ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually occurs in young adults | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually poor response to steroid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually poor response to steroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually presents in third to fourth decade (but onset can range from childhood to elderly) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually sporadic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually sporadic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually sporadic disorder resulting from de novo 22q11.2 deletion ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually sporadic, but 1-2% of cases are familial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually sporadic, few cases described with autosomal dominant inheritance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:usually symptomatic in adulthood with history of weakness since infancy or childhood ---
r_associated #0: 20 -->
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
- en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variability in age of onset and severity of disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variability in age of onset and severity of disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- 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: 20 -->
en:no consistent dysmorphic facial phenotype
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:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at diagnosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at diagnosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (8 to 62 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (8 to 62 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (birth to adolescence) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (birth to adolescence) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (birth to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (birth to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (childhood to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (childhood to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (childhood to age 50) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (childhood to age 50) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (earliest reported 7 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (earliest reported 7 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (infant to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (infant to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (late childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (late childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 10 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 10 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 14 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 14 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 15 to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 15 to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 2 to 48 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 2 to 48 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 2 to 59 years, mean 24 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 25 to 78 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 25 to 78 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 4 to 40 years, mostly in first or second decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 6 to 54 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 6 to 54 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 8 to 60 years, mean 32) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range 9 to 78 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range 9 to 78 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range adolescence to late adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range adolescence to late adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range birth to 60 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range birth to 60 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range birth to teenage years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range birth to teenage years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range childhood to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range childhood to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range childhood to late adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range childhood to late adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range childhood to mid-sixties) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range first to fourth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range first to fourth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range first to third decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range first to third decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range from early childhood to mid-adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range infancy to 30 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range infancy to 30 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range infancy to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range infancy to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range infancy to late adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range infancy to late adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range infancy to young adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range infancy to young adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range late infancy to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range late infancy to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range prenatal to mid-adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range prenatal to mid-adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range teenage to adult years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range teenage to adult years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (range teens to late adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (range teens to late adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset (usually 20 to 30 years of age) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset from childhood to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset from childhood to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of arrhythmia (range 12 to 59 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of arrhythmia (range 12 to 59 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of neuropathy (range first to sixth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of neuropathy (range first to sixth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of seizures ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of seizures | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of symptoms (from childhood to the sixth decade of life) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of symptoms, from second to fifth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of symptoms, from second to fifth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset of symptoms, ranging from the second to seventh decades of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, but most often in the first 2 decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, but most often in the first 2 decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, but usually in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, but usually in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, early childhood to adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, early childhood to adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, first to second decades ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, first to second decades | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, from birth to ninth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, from birth to ninth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, from first decade to fourth or fifth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, from first decade to fourth or fifth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, infancy to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, infancy to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, most often in second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, most often in second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, mostly in third decade (range teenage years to fourth decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, range from infancy to adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, range from infancy to adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, range infancy to adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, range infancy to adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, ranges from third to fifth decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, ranging from 18 months to 27 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, ranging from childhood to adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, ranging from childhood to adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, ranging from childhood to late adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, ranging from prelingual at birth to fifth decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, ranging from prelingual at birth to fifth decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, usually first or second decade ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, usually first or second decade | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, usually in first decade, but can occur later ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (20 to 35 years old) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (20 to 35 years old) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (6 to 35 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (6 to 35 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (7-59 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (7-59 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (childhood to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (childhood to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (childhood to young adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (childhood to young adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (first to third decades) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (first to third decades) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (infancy to 63 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (infancy to 63 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range 1 to 30 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range 1 to 30 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range 1-40 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range 1-40 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range 13 to 67 years, median 48 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range 4 months to 45 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range 4 months to 45 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range 4 to 47 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range 4 to 47 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range early childhood to adult) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range early childhood to adult) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset (range first to third decade) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset (range first to third decade) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset of parkinsonism (first decade to adulthood) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset of renal manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset of renal manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset, from 6 to 50 years of age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset, from 6 to 50 years of age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset, from early childhood to seventh decade of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable age of onset, ranging from 11 to 50 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable cardiac defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable cardiac defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable cardiac phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable cardiac phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable cataract phenotypes within a family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable cataract phenotypes within a family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical presentation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical presentation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical presentation ranging from acute onset to normal adult ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical presentation that may change with age ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical presentation that may change with age | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable clinical severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable clinical severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable disease course ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable disease course | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable disease severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable disease severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable distribution, may be focal, segmental, multifocal, or generalized ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable duration (minutes to hours) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable duration (minutes to hours) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expression and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expression and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expression of features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expression of features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity in families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity in families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity of each feature ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity of each feature | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity within a family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity within a family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity, even within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity, even within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable expressivity, some patients may be clinically asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable extraneurologic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable extraneurologic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable facial dysmorphic features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable facial dysmorphic features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable features and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable features and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable features present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable features present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable frequency (2 per day up to 1 per month) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable frequency (2 per day up to 1 per month) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable frequency (daily to monthly) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable frequency (daily to monthly) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable frequency (weekly to yearly) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable frequency (weekly to yearly) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable frequency and duration of episodes ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable frequency and duration of episodes | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable frequency and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable frequency and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable heat tolerance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable heat tolerance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable ictal semiology ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable ictal semiology | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable infectious phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable infectious phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable involvement of hematologic parameters ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable involvement of hematologic parameters | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable locations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable locations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable manifestation of features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable manifestation of features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable neurologic phenotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable neurologic phenotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable neuroradiologic findings ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable neuroradiologic findings | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable number of nails involved ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable number of nails involved | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable onset of seizures from neonatal to first year of life ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable onset of seizures from neonatal to first year of life | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable onset, from infancy to young adulthood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable onset, from infancy to young adulthood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable pattern of body involvement although symptoms may predominate in upper or lower body ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable penetrance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable penetrance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable penetrance and expressivity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable penetrance and expressivity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable penetrance of these features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable penetrance of these features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype (myotonia may or may not be present) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype (myotonia may or may not be present) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype (range from completely female to males with mild undermasculinization) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype depending on residual enzyme activity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype depending on residual enzyme activity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype ranging from woolly to sparse hair, even within a single family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype within and between oi5 families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype within and between oi5 families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype within families ranging from woolly hair to hypotrichosis ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype, particularly with regard to cortical malformations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotype, some patients have very mild symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotype, some patients have very mild symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotypic expression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotypic expression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotypic expression within same individual in each eye (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotypic expression within same individual in each eye (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable phenotypic features cataloged depending on development of fetus or infant ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable phenotypic features cataloged depending on development of fetus or infant | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable presentation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable presentation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable presentation and evolution of symptoms ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable presentation and evolution of symptoms | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable presentation and manifestations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable presentation and manifestations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable presentation of clinical features ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable presentation of clinical features | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable progression rate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable progression rate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable response to acetazolamide and carbamazepine ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable response to acetazolamide and carbamazepine | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable response to acetylcholinesterase inhibitors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable response to acetylcholinesterase inhibitors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable response to levodopa treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable response to levodopa treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable response to steroid treatment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable response to steroid treatment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable response to vitamin b12 therapy ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable response to vitamin b12 therapy | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity (in patients with hsan2d) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity (in patients with hsan2d) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity (mild symptoms to severe handicap) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity (mild symptoms to severe handicap) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity and progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity and progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity between patients and between eyes (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity between patients and between eyes (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity of brain malformations ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity of brain malformations | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity of phenotype and other features may be present ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity of phenotype and other features may be present | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity of scaling and palmoplantar keratoderma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity of scaling and palmoplantar keratoderma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity that correlates with rate and magnitude of neuronal protein accumulation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, correlates with age at onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, correlates with age at onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, even within families ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, even within families | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, intrafamilial ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, intrafamilial | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, ranging from 'typical' to 'severe' disease ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, ranging from central severe to peripheral to transient ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable severity, some patients have a protracted course with little neurologic involvement ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable survival ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable survival | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variable survival (some neonatal lethality) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variable survival (some neonatal lethality) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variably expressivity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variably expressivity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variably severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variably severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variant at may present with dystonia only ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variant at may present with dystonia only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:variation in slc24a5 has also been associated with variation in skin color (shep4) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vasculitic symptoms are associated with cold exposure (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vast majority of heterozygotes are asymptomatic ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vast majority of heterozygotes are asymptomatic | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:venous malformations previously referred to as angiomas or hemangiomas ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:very few patients reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:very few patients reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:very rare ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:very rare | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:very slow progression ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:very slow progression | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:very variable phenotype, with some patients having many features and others only a few ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vhl type 1 - renal carcinoma and hemangioblastoma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vhl type 2a - hemangioblastoma and pheochromocytoma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vhl type 2b - renal carcinoma and pheochromocytoma ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:vhl type 2c - pheochromocytoma only ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:vhl type 2c - pheochromocytoma only | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:virtually all patients are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:virtually all patients are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:virtually all patients with this condition are female ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:virtually all patients with this condition are female | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visceral manifestations are less apparent ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visceral manifestations are less apparent | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual acuity better than anticipated from ophthalmoscopic appearance ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual acuity better than anticipated from ophthalmoscopic appearance | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual acuity varies from 20/20 to no light perception ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual acuity varies from 20/20 to no light perception | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual and hearing loss are slowly progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual and hearing loss are slowly progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual field and color defects invariably present only in patients with advanced loss of vision ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual impairment is present at birth and is progressive ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual impairment is present at birth and is progressive | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:visual symptoms present by late childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:visual symptoms present by late childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:waddling gait ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:waddling gait | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:waddling gait noted at age 15-20 months ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:waddling gait noted at age 15-20 months | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:waddling gait, often presenting sign in second year ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:waddling gait, often presenting sign in second year | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:waddling gate ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:waddling gate | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:walking delay ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:walking delay | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:warm weather and alcohol are alleviating factors ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:warm weather and alcohol are alleviating factors | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wasting of hands often occurs first ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wasting of hands often occurs first | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wasting of the hands is the first and most prominent manifestation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:waxing and waning cardiomyopathy (in some patients) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wheelchair use at 20-30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wheelchair use at 20-30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wheelchair use by 10-30 years ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wheelchair use by 10-30 years | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wheelchair-bound after 2 decades of disease onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wheelchair-bound average 12 years after onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wheelchair-bound average 12 years after onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:when present, onset of vestibular dysfunction in childhood ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:when present, onset of vestibular dysfunction in childhood | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide clinical variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide clinical variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide phenotypic variability ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide phenotypic variability | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide phenotypic variability and severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide phenotypic variability and severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide phenotypic variation ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide phenotypic variation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide range of onset from childhood to adult (10 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide range of severity between affected members of the same family ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide range of severity between affected members of the same family | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide spectrum of severity ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide spectrum of severity | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:wide variability in severity of limb defects ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:wide variability in severity of limb defects | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:women affected more than men (3:2) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:women affected more than men (3:2) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:women are more often affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:women are more often affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:women may be mildly affected ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:women may be mildly affected | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worldwide frequency of 1 in 100,000 infants ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worldwide frequency of 1 in 2,000,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worldwide incidence of 1 in 185,000 live births ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worldwide prevalence of 1/100,000 ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worldwide prevalence of 1/100,000 | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worsening of hand weakness with cold (in some) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worsening of hand weakness with cold (in some) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:worsening of symptoms during sleep ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:worsening of symptoms during sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:x-linked inheritance could not be ruled out ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:x-linked inheritance could not be ruled out | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:x-linked recessive cytochrome b-negative cgd ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:xy karyotype ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:xy karyotype | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:young adult onset ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:young adult onset | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:young adult onset (range 13 to 50 years) ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:young adult onset (range 13 to 50 years) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:young-adult onset (18-30 years) of sensory ataxia ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:younger onset rarely reported ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:younger onset rarely reported | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:z allele most common, only in caucasians ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:z allele most common, only in caucasians | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:zinc deficiency in breastfed offspring resolves after weaning ---
r_associated #0: 20 -->
en:no consistent dysmorphic facial phenotype
n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- douleur dans une articulation ---
r_associated #0: 15 -->
en:no consistent dysmorphic facial phenotype
n1=douleur dans une articulation | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=15
- large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients ---
r_associated #0: 15 -->
en:no consistent dysmorphic facial phenotype
n1=large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=15
- moniteur de glucose sanguin avec synthétiseur vocal intégré ---
r_associated #0: 15 -->
en:no consistent dysmorphic facial phenotype
n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=15
- symptômes autonomes associés aux céphalées ---
r_associated #0: 15 -->
en:no consistent dysmorphic facial phenotype
n1=symptômes autonomes associés aux céphalées | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=15
- algie articulaire ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=algie articulaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- apparition de tumeurs hématologiques ou du SNC dans la première ou deuxième décennie de vie ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=apparition de tumeurs hématologiques ou du SNC dans la première ou deuxième décennie de vie | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- apparition des tumeurs généralement à l'âge adulte ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=apparition des tumeurs généralement à l'âge adulte | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- certaines tumeurs peuvent être instables sur le plan des microsatellites et porter des mutations somatiques dans les gènes de réparation des mésappariements msh ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=certaines tumeurs peuvent être instables sur le plan des microsatellites et porter des mutations somatiques dans les gènes de réparation des mésappariements msh | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- douleur articulaire ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=douleur articulaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- déficience congénitale ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=déficience congénitale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- déformation congénitale ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=déformation congénitale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- hétérozygotes asymptomatiques susceptibles à la toxicité du plomb ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- mort du nouveau-né ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=mort du nouveau-né | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- mort néonatale ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=mort néonatale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- pas de prédisposition au développement de tumeurs cutanées ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=pas de prédisposition au développement de tumeurs cutanées | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- patients développant des tumeurs multiples ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=patients développant des tumeurs multiples | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- perte du gène suppresseur de tumeur ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=perte du gène suppresseur de tumeur | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- polyhydramnios ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=polyhydramnios | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- quadriplégie spastique, rétinite pigmentaire et retard mental ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- rétinite pigmentaire (classification de Fishman) ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=rétinite pigmentaire (classification de Fishman) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- troubles congénitaux ---
r_associated #0: 10 -->
en:no consistent dysmorphic facial phenotype
n1=troubles congénitaux | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=10
- Lester (signe de) ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=Lester (signe de) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- Létal ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=Létal | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- Rétinite pigmentaire ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=Rétinite pigmentaire | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- anomalie congénitale ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=anomalie congénitale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- arthralgie ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=arthralgie | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- disomie uniparentale ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=disomie uniparentale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- en:congenital anomaly ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=en:congenital anomaly | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- malformation congénitale ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=malformation congénitale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- septicémie du nouveau-né ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=septicémie du nouveau-né | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- septicémie néonatale ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=septicémie néonatale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
- syndrome de prédisposition tumorale ---
r_associated #0: 5 -->
en:no consistent dysmorphic facial phenotype
n1=syndrome de prédisposition tumorale | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=5
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