Diko : en:incidence worldwide of 1 in 30,000 to 50,000

en:incidence worldwide of 1 in 30,000 to 50,000

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3806564

Associations d'idées

[F]

›

1000

en:visual field and color defects invariably present only in patients with advanced loss of vision

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en:early death without bone marrow transplantation

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en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:variable age of onset (6 to 35 years)

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en:stage iv, late motor deterioration (when ambulation ceases)

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en:overlap with obsessive-compulsive disorder (ocd, 164230)

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en:onset of ataxia in the fifties

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en:onset in childhood, adolescence

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en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)

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en:increased prevalence in individuals of jewish-iraqi origin

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en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis

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en:(2) juvenile or adolescent nephropathic (219900)

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en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes

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en:death in childhood

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en:congenital onset or onset before 2 years (prelingual)

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en:arthralgia

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en:allelic to anterior segment mesenchymal dysgenesis (107250)

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en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)

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en:adult form onset has after 20 years

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en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative

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en:variable phenotype within families ranging from woolly hair to hypotrichosis

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en:gestational age:time:pt:^fetus:qn:amniocentesis

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en:increased risk of early death

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en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)

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en:infantile onset (in 1 patient)

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en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)

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en:spontaneous resolution of seizures by 12 months of age

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en:some patients show improvement during summer or with fever

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en:prevalence of 2-7% in english-speaking preschool children

•

en:onset within first year of life

•

en:onset usually in first or second decades

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en:onset of acne in adolescence, persists into adulthood

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en:one family has been reported (last curated november 2014)

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en:most patients remain ambulatory

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en:symptom onset ranges from infancy to adulthood

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en:genetic heterogeneity (see psnp1 601104)

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en:death usually occurs in first decade of life

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en:foot deformities are present in infancy or childhood

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en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)

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en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)

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en:death due to respiratory insufficiency within minutes to hours after birth

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en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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en:dip is a pathologic diagnosis that may represent other disease entities

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en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)

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en:episode, syncopal

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en:fatal without bone marrow transplantation

•

en:many cases due to de novo mutation or chromosome aberration

•

en:patients can have multiple seizure types

•

en:onset usually in second decade

•

en:onset usually in early childhood (but can range from infancy to adolescence)

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en:onset of bleeding in infancy or early childhood

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en:onset in utero or at birth

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en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)

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en:onset in childhood (3 to 10 years)

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en:onset between 7 and 27 years of age

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en:myoclonic seizures occur on awakening or within 2 hours of awakening

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en:most patients have a family history of fragile x syndrome

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en:highly variable clinical and immunologic phenotype

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en:many adults with typical form remain ambulatory

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en:late adult onset (after age 55 years)

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en:incidence of 1 in 500,000 live births

•

en:hypertension is presenting sign

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en:high occurrence of de novo mutations

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en:genetic heterogeneity

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en:exacerbation during febrile episodes

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en:death in childhood may occur

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en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)

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en:approximately 70-80% of cases are de novo and sporadic

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en:seizures usually occur in the first months of life

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en:persistence of febrile seizures beyond age 6 years

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en:childhood onset rarely occurs

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en:smaller repeat lengths in younger generations (reverse anticipation)

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en:one korean family has been reported (as of november 2011)

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en:spasticity occurs before parkinsonism

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en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)

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en:variable age at onset (range late infancy to adulthood)

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en:prevalence of 1 in 3,900 in south africa

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en:prevalence is estimated to be 1 in 1,100,000

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en:possibly allelic to cohen syndrome (216550)

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en:onset of disease around 10 years of age

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en:onset in second and third decades

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en:onset between the second and sixth decades

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en:onset at 4 to 10 years

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en:onset of symptoms age 5-30

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en:many cases are asymptomatic

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en:10% due to paternal deletion

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en:high pain threshold

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en:type a characterized by progressive myoclonic epilepsy

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en:upper limb involvement may occur later

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en:all de novo mutations

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en:begins in feet and legs (peroneal distribution)

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en:death usually by age 10 years

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en:female carriers may have hearing loss

•

en:genetic heterogeneity (see 161400)

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en:genetic heterogeneity (see 213300)

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en:onset in childhood (range infancy to 10 years)

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en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)

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en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14

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en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)

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en:only apparent in patients taking eculizumab

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en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

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en:onset in first 6 months of life

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en:onset in newborns or infants

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en:patients with contiguous gene deletion of 8q24 have more severe features

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en:phenotypic overlap with denys-drash syndrome (194080).

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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

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en:juvenile onset 4 years to puberty

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en:majority of cases are due to de novo mutation

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en:age of onset usually 1 week to 2 years

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en:incidence of 1 in 5,000-8,000

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en:gene frequency in northwest puerto rico 1 in 18

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en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype

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en:extremely variable phenotype

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en:early lethality in most cases

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en:death between 2 years of age and young adulthood

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en:clinical overlap with dejerine-sottas syndrome (dss, 145900)

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en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies

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en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption

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en:broad-based gait

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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

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en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient

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en:truncating mutations in crebbp found in 10% of patients

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en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid

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en:striking intrafamilial variability

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en:variable extraneurologic features

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en:most patients become wheelchair-bound in adolescence

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en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative

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en:telangiectases persist in adulthood

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en:spasticity is slowly progressive

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en:presumed autosomal dominant with incomplete penetrance

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en:periodontium is less severely affected than in papillon-lefevre syndrome

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en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)

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en:onset usually in infancy

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en:onset of acanthosis nigricans correlates with onset of diabetes

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en:onset at birth or early childhood

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en:one patient has been reported (last curated april 2014)

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en:occurs on right side in 75% of cases

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en:nonprogressive

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en:nail changes may be intermittent in some patients

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en:onset of clinical features around puberty

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en:mild involvement of face and arms

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en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)

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en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)

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en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

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en:based on report of 1 family (last curated october 2014)

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en:congenital abnormality

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en:early death in males

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en:expression more severe in females than males, except for mosaic males

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en:genetic heterogeneity, see ppnad2 (610475)

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en:good response to fibrinolytic inhibitors

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en:hearing loss and ocular findings are variable

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en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)

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en:late infantile form has onset between 19 months and 4 years

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en:males may be more affected than females

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en:most patients become wheelchair-bound in the second to fourth decades

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en:multiple lesions in familial cases

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en:normal sweat electrolytes

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en:patients may present with recurrent illnesses or infections, or shock

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en:possible defect of a specific lipase in the pathway of free fatty acid oxidation

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en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)

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en:signs and symptoms depend on tumor location and activity

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en:some patients do not achieve independent ambulation

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en:subtype 3c (231005) comprises cardiovascular calcifications

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en:three times more common in males

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en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats

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en:loss of ambulation within 10 years of onset

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en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

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en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:loss initially affects mid and high frequencies

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en:female carriers experience significant clinical manifestations

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en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative

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en:additional features are variably present

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en:allelic disorder to nonaka myopathy (605820)

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en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes

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en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement

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en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca

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en:genetic heterogeneity, see mgr1 (157300)

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en:greater expression in females

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en:hearing loss may be stable or progressive

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en:high frequency of de novo mutations

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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)

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en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum

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en:increased paternal age

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en:variable clinical severity

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en:relatively mild cutis laxa, associated with severe vascular abnormalities

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en:adult onset (range 34 to 66 years)

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en:survival to 20 years in severe form

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en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy

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en:variable presentation

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en:sensorineural hearing loss may be presenting feature

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en:six patients from 4 families have been reported (last curated january 2015)

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en:sleepwalking usually remits in adolescence

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en:some patients may have a more protracted disorder with neurodegeneration

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en:symptoms of zinc deficiency occur only in exclusively breastfed infants

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en:onset usually in the neonatal period although later onset has been reported

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en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)

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en:variable age of onset, ranging from 11 to 50 years

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en:variable age of onset (range first to third decade)

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en:variable frequency (2 per day up to 1 per month)

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en:allelic to tyrosinemia, type iii (276720)

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en:overlap with tourette syndrome (137580)

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en:tremors develop after seizures

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en:onset of symptoms in third to sixth decade of life

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en:group a, found in north american indians, has lactic acidosis and psychomotor retardation

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en:a mutation in the cxorf5 gene has been reported in 1 affected family

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en:one family has been reported (last curated february 2015)

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en:death may occur in infancy

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en:death usually occurs by 12 months of life

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en:de novo mutation

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en:frequency and severity of symptoms do not worsen with age

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en:five patients have been reported (last curated december 2014)

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en:live born infants die within few hours of birth

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en:not all nails are affected in some patients

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en:may be lethal in the neonatal period

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en:most patients are from finland

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en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy

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en:most remit by 2 months

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en:no clinical manifestations were noted (incidental laboratory finding)

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en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)

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en:one family with 2 sisters have been reported (as of march 2010)

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en:onset before age 40 years

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en:onset of gait abnormalities at 8 to 40 years

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en:patients may become totally dependent for all activities of daily living

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en:onset of joint contractures later in life

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en:onset usually within first weeks of life

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en:poor response to acetylcholinesterase inhibitors

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en:melnick-needles syndrome (mns, 309350) is an allelic disorder

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en:prevalent in quebec

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en:one family and an unrelated patient have been reported (last curated july 2014)

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en:four clinical forms of krabbe disease

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en:majority of cases are sporadic, some autosomal dominant families have been described

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en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder

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en:lifetime risk of breast cancer in mutation carriers is 80 to 90%

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en:levodopa-responsive

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en:later onset has been reported

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en:highly variable phenotype and severity, even within families

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en:genetic heterogeneity, see ekd1 (128200)

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en:autosomal recessive inheritance (245600) has also been suggested

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en:affected males who survive are secondary to new mutations

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en:adult onset (18 to 60 years)

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en:seizures are refractory to medication

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en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years

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en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)

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en:seizures may be triggered by infection

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en:one family has been reported (last curated november 2012)

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en:seizures tend to occur upon awakening

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en:two patients without cardiomyopathy or cataracts have been reported

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en:static, nonprogressive disorder

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en:stable or slowly progressive course

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en:some patients do not have thin corpus callosum

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en:some heterozygotes may have increased urinary excretion of cystine and may develop stones

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en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene

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en:onset within first 2 years

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en:onset in fourth decade

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en:very few patients reported

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en:muscle weakness increases with age

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en:type ii patients are usually japanese and have significant aprt activity (10-25%)

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en:most patients die within the first year of life

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en:symptoms noted at 2-3 years

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en:two fetuses have been reported (as of august 2011)

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en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis

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en:21 patients from 17 kindreds reported (as of february 2012)

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en:associated with iron deficiency anemia

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en:death before age 15 in iia

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en:fatal without lung transplant

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en:focal or segmental onset in cranial-cervical area or upper limbs

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en:most patients present in infancy with anemia

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en:teeth may undergo post-eruptive changes

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en:symptoms may be aggravated by acute illness

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en:some patients have cessation of seizures at a mean of 12 years

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en:slight male predominance (3:2)

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en:onset in teens to late twenties (range 14 to 44 years)

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en:onset in fourth and fifth decades

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en:onset before age 2 years

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en:onset at 4 to 7 years

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en:often associated with klippel-feil anomaly (118100)

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en:increased frequency in the state of bahia, brazil

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en:most have onset in first or second decade

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en:most cases are isolated

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en:may be lethal in infancy if untreated

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en:marked phenotypic variability

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en:intrafamilial phenotypic variation may occur

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en:germline or somatic mutations may cause the disorder

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en:early onset in some patients

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en:classic severe form shows onset at 2 to 3 months of age

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en:adult onset (mean of 30 years)

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en:99+% of the mutations are fgfr3, g380r (134934.0001)

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en:variable age at onset, range from infancy to adulthood

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en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:wide spectrum of severity

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en:normal alleles contain up to 30 repeats

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en:based on 2 reports of 3 patients (last curated september 2012)

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en:usually occurs in young adulthood

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en:two sisters have been reported (last curated september 2013)

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en:two patients reported (last curated may 2013)

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en:two families have been reported (as of may 2012)

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en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

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en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

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en:normal development between episodes

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en:patients have severe anemia requiring regular transfusions for normal activity

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en:most patients become wheelchair-bound

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en:decreased penetrance

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en:based on 4 patients in one family

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en:levodopa-induced dyskinesias

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en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype

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en:death occurs in second or third decade

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en:chronic, relapsing condition

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en:diabetes and anemia respond to high doses of thiamine supplementation

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en:diarrhea worsens in parallel with increases in severity of skin disease

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en:frequency increases with advancing age

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en:increased frequency in ashkenazi jewish population and in finland

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en:initially normal rod responses may become significantly reduced at older age

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en:results in severe motor disability and loss of independent ambulation

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en:relapsing-remitting course

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en:prevalence ranges from 1 in 12,000 to 1 in 50,000

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en:onset in early infancy

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en:one family has been reported (as of august 2010)

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en:often refractory to medical therapy

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en:neurologic deterioration is severe after age 2 to 2.5 years

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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)

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en:symptoms begin focally, later segmental or generalized

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en:incidence of 1 in 20,000 live births

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en:heterozygotes have half-normal levels of apob-containing lipoproteins

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en:genetic heterogeneity (see mada, 248370)

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en:genetic heterogeneity (see enfl1, 600513)

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en:genetic heterogeneity (see cms1a2, 254210)

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en:episodes usually last 1 to 2 days

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en:death usually occurs in infancy or childhood if untreated

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en:autosomal dominant inheritance has been rarely reported (187800)

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en:(1) classic severe (onset of symptoms 4 to 7 days of age)

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en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:performing laboratory phone:tele:pt:facility:nom

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en:no skeletal abnormalities in odontohypophosphatasia

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en:three amish patients have been reported (as of february 2012)

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en:in the absence of hydrops, death occurs within 3 months

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en:variable age of onset (range 4 months to 45 years)

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en:three patients from 2 families have been reported (last curated december 2014)

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en:three families have been reported (last curated november 2010)

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en:patients are often of mediterranean origin

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en:other tumors may also occur

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en:most patients have adult onset of symptoms

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en:most common muscle disease of older persons

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en:most cases due to de novo mutation

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en:median survival 5.7 years

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en:mean age at diagnosis 8.8 years (range 0.2-23 years)

•

en:occurs in the absence of trauma

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en:heterozygotes exhibit blue sclerae and soft velvety skin

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en:cardiac features are observed in ~3% of cases

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en:hair may normalize at puberty

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en:waddling gait noted at age 15-20 months

•

en:reference lab test name:type:time reported elsewhere:reference lab test:nominal

•

en:(5) dihydrolipoyl dehydrogenase (e3)-deficient

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en:attacks often drug-induced

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en:death secondary to renal failure, cardiac or cerebrovascular disease

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en:female carriers may have asymptomatic proteinuria or hypercalciuria

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en:genetic heterogeneity (see, e.g., atfb3, 607554)

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en:painful cramping following ischemic exercise test

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en:rapidly progressive episodes

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en:patients may become wheelchair-bound

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en:possible gonadal mosaicism in one report

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en:prevalence of 1 in 40,000

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en:prevalent among patients of asian descent, particularly japanese

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en:two sibs have been reported (last curated may 2013)

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en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens

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en:secondary hemorrhage

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en:symptoms often improve gradually with age

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en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract

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en:two families with different phenotypes have been reported (as of september 2010)

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en:one consanguineous turkish family has been reported (last curated december 2014)

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en:onset between 18 and 65 years

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en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)

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en:mild expression in heterozygous carriers

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en:may be present in asymptomatic adults

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en:majority of eec cases appear to be secondary to tp63 (603273) mutations

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en:jbts shows autosomal dominant inheritance

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en:hearing impairment may improve with age

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en:green color resolves if cholestasis is treated

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en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1

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en:does not lead to hepatic failure

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en:diagnosis typically between age 10-20 years

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en:death in utero or early infancy

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en:date of autopsy:date:pt:^patient:qn

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en:age of onset 5 to 22 years (mean 6.9)

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en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:fasting status:acnc:pt:^patient:ord:reported

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en:incidence 1 in 20,000

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en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:onset usually in early adolescence

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en:most patients lose ambulation 2 years after onset

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en:neonatal death

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en:one patient with limited clinical information has been reported (last curated october 2014)

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en:one patient with normal psychomotor development has been reported (last curated december 2012)

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en:onset in the sixth or seventh decades

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en:onset ranges from childhood to young adulthood

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en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

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en:may result in death in neonatal period or early childhood

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en:ptosis is usually presenting feature

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en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses

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en:some patients may present with myopathic features

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en:two affected sibs have been reported (last curated july 2014)

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en:allelic with retinitis pigmentosa 35 (610282)

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en:variable age at onset (range infancy to adulthood)

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en:mode of inheritance is unclear

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en:upper limb involvement occur later

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en:majority of children die between 6 months and 5 yrs

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en:death from pneumonia

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en:in general, men have more severe disease than women

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en:anemia does not respond to alpha-interferon treatment

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en:blistering becomes confined to the palms and soles with age

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en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24

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en:clinical and pathologic features of both demyelinating and axonal cmt

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en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)

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en:autosomal recessive inheritance has been suggested

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en:described in families from galicia, spain

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en:heterozygous female carriers may manifest symptoms

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en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

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en:genetic heterogeneity (see 604559)

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en:genetic heterogeneity (see pfm1, 168500)

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en:increased male-to-female ratio (3-4 to 1)

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en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

•

en:seizures are provoked by immersion in hot or warm water

•

en:see also hmn2b (608634)

•

en:scalp hair quality improves during pregnancy

•

en:see 607731 for an autosomal recessive form

•

en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members

•

en:responsive to oral mannose therapy

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:repeat tracts may expand as patient ages (somatic instability)

•

en:severe hearing loss by age 50 years

•

en:rare adult onset

•

en:rare patients with homozygous null mutations have most severe disease

•

en:spontaneous reversal of gnrh deficiency may occur in some patients

•

en:short umbilical cord

•

en:sudden death in affected females occurs in the forties

•

en:symptoms remain focal

•

en:prevalence of 1 in 70,000

•

en:symptoms progress with worsening myopathy

•

en:symptoms precipitated by stress, exertion, fatigue, alcohol

•

en:surgical intervention is not always curative

•

en:sudden death secondary to impaction of medulla oblongata

•

en:onset of renal failure in adulthood (range twenties to fifties)

•

en:some patients can attend special school

•

en:sudden death due to cardiac arrhythmia may occur

•

en:stage ii, rapid developmental regression (onset 1-4 years)

•

en:spontaneous bleeding is rare

•

en:some phenotypic overlap with rett syndrome (312750)

•

en:some patients present with spasticity, whereas others present with cerebellar ataxia

•

en:some patients have additional neurologic involvement

•

en:prominent psychiatric symptoms

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:prevalence of 1 in 30,000 in northern europe

•

en:patients are susceptible to sepsis and dehydration

•

en:the frequency is estimated at 1/20,000 to 1/50,000 births

•

en:onset of skin manifestations from birth to puberty

•

en:onset of symptoms in second or third decade

•

en:onset ranges from birth to age 4 years

•

en:onset soon after birth

•

en:onset usually by age 2 years

•

en:onset usually in childhood or adolescence

•

en:onset usually in first month of life

•

en:onset usually in infancy although later onset may occur

•

en:onset usually in late infancy or childhood (1 to 6 years)

•

en:onset usually in the neck

•

en:onset usually in the third decade (range 11 to 50 years)

•

en:onset usually in third or fourth decade

•

en:part of 'dent disease complex'

•

en:patients develop multiple tumors

•

en:prevalence of 1 in 3,000

•

en:polyps occur in teens

•

en:presentation in early childhood

•

en:prenatal or neonatal onset

•

en:predominantly occurs in young males with a high rate of atopic disease

•

en:possible x-linked dominant inheritance

•

en:positive family history in 12-33% patients

•

en:poor or no response to glucocorticoid treatment

•

en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)

•

en:patients do not have clinical hypothyroidism

•

en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)

•

en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)

•

en:phenotypic overlap with fhm1 (141500) and sca6 (183086)

•

en:phenotypic heterogeneity

•

en:percentages based on review of 51 published cases (pmid 24891339)

•

en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt

•

en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints

•

en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:three families have been reported (last curated april 2011)

•

en:acral form of skin peeling limited to hands and feet (609796)

•

en:date ultrasound:date:pt:^patient:qn

•

en:performing laboratory:addr:pt:facility:nom

•

en:reference lab test identifier:id:xxx:reference lab test:nom

•

en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal

•

en:resource identifier:uri:pt:study:nom

•

en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset of motor disturbances in childhood

•

en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:blood glucose monitor with integrated voice synthesizer

•

en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation

•

en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)

•

en:about 50% of mutation carriers are asymptomatic

•

en:absence seizures usually remit by puberty

•

en:adult-onset in third to fourth decade

•

en:wasting of hands often occurs first

•

en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement

•

en:allelic to hand osteoarthritis (607850)

•

en:allelic to dentin dysplasia, type 2 (125420)

•

en:allelic to cowden disease (158350), which has a later age at onset

•

en:allelic disorder to rippling muscle disease (rmd, 606072)

•

en:allelic disorder to primary erythermalgia (133020)

•

en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)

•

en:age of onset varies between 18 years and 53 years

•

en:adult onset (45 to 76 years)

•

en:age of onset of upper limb involvement 10-43 years

•

en:age of onset between 20 to 30 years

•

en:age at diagnosis 2-4 months

•

en:age-dependent penetrance

•

en:affected individuals remain ambulatory

•

en:adult onset (mean 30 years, range 5-60 years)

•

en:miscellaneous

•

en:virtually all patients with this condition are female

•

en:three patients have been reported (as of august 2011)

•

en:two of 6 patients became wheelchair-bound by age 20 years

•

en:two types - severe infantile form (type i) and milder form (type ii)

•

en:two sibs have been reported (last curated october 2014)

•

en:two sibs have been reported (as of august 2011)

•

en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)

•

en:two patients required liver transplantation

•

en:two pakistani families have been reported (last curated december 2012)

•

en:two japanese brothers have been reported (as of september 2011)

•

en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles

•

en:two families of canadian origin have been reported (last curated may 2012)

•

en:two families have been reported (as of june 2011)

•

en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes

•

en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)

•

en:treatment with enzyme replacement therapy

•

en:unusual skill with jigsaw puzzle

•

en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies

•

en:variable age of onset (infancy to 63 years)

•

en:variable severity, some patients have a protracted course with little neurologic involvement

•

en:variable response to vitamin b12 therapy

•

en:variable presentation and evolution of symptoms

•

en:variable features present

•

en:variable duration (minutes to hours)

•

en:variable age of onset (range 13 to 67 years, median 48 years)

•

en:variable age at onset (range teens to late adult)

•

en:usually adult onset

•

en:variable age at onset (range infancy to 30 years)

•

en:variable age at onset (range childhood to adulthood)

•

en:variable age at onset, ranging from childhood to late adulthood

•

en:variable age at onset, most often in second decade

•

en:usually sporadic, but 1-2% of cases are familial

•

en:usually occurs in young adults

•

en:onset of other symptoms in adolescence or early adulthood

•

en:one family has been reported (last curated december 2012)

•

en:onset of hemolytic anemia shortly after birth

•

en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features

•

en:high frequency in tibetan individuals

•

en:high frequency seizures

•

en:incidence approximately 2-3/10,000 newborns

•

en:independent ambulation is maintained

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

en:infants show normal size and appearance

•

en:inheritance pattern is unclear

•

en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities

•

en:joint symptoms begin in third or fourth decade

•

en:juvenile absence epilepsy (jae, 607631)

•

en:juvenile form has onset between 4 and 19 years

•

en:later onset can also occur (up to age 17 years)

•

en:lesions become more prominent with sun exposure

•

en:lifetime risk of breast cancer in male mutation carriers in 6%

•

en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures

•

en:highly variable pathologic phenotype

•

en:male predominance

•

en:median survival is > 50 years

•

en:mean age of onset 14-24 months

•

en:may be triggered by increased practice

•

en:manifestations continue to appear until 5th decade

•

en:malnutrition can be severe, requiring total parenteral nutrition

•

en:male to female ratio 21:8

•

en:male-limited trait

•

en:liver enzymes decrease with age

•

en:majority of patients from italy and southwestern united states

•

en:majority of individuals are healthy

•

en:majority of cases occur in brazilian population

•

en:majority of affected individuals are female (85%)

•

en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)

•

en:long duration

•

en:highly variable phenotype with regard to pigmentation

•

en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss

•

en:mliii is a heterogeneous disorder

•

en:five patients have been reported (as of 8/2011)

•

en:allelic to multiple pterygium syndrome, lethal type (253290)

•

en:estimated frequency of 1 in 40,000 live births

•

en:estimated incidence 1/20,000 - 1/40,000

•

en:facial dysmorphic features may not be present and may become less apparent in adulthood

•

en:facial dysmorphism is uncommon

•

en:fatigue

•

en:favorable response to flunarizine

•

en:features in addition to mental retardation are variable

•

en:features may be bilateral (15/24) or left side (9/24)

•

en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)

•

en:female carriers may have mild mental retardation

•

en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase

•

en:female predominance (4:1)

•

en:first identified in individuals of cypriot origin

•

en:five patients have been reported (as of june 2011)

•

en:hair phenotype present at birth and involves entire scalp region

•

en:genetic heterogeneity (see 145410)

•

en:global developmental delay

•

en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)

•

en:genetic heterogeneity (see npc1, 257220)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)

•

en:genetic heterogeneity (see 607634)

•

en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

en:genetic anticipation has been observed

•

en:gait disturbance

•

en:frequent neonatal sudden death

•

en:four patients have been reported from pakistan (as of march 2011)

•

en:four cases have been reported, all female

•

en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)

•

en:metabolic decompensation, episodic

•

en:more commonly observed in women

•

en:onset of dysmorphic features and developmental delay in infancy

•

en:onset in adolescence to early adulthood

•

en:one patient reported with slitrk1 mutation (as of january 2010)

•

en:one such patient has been reported (last curated january 2015)

•

en:one third of patients represent new mutations

•

en:onset 23 to 30 years

•

en:onset 6 to 30 years

•

en:onset <30 months

•

en:onset age 32 to 45 years

•

en:onset at 2 to 4 years

•

en:onset before 10 years of age in all patients

•

en:onset between 5 and 20 years

•

en:onset between 6 and 12 months of age

•

en:onset between ages 12 and 20 years

•

en:onset between age 2 and 15 years

•

en:onset birth to early infancy

•

en:onset in childhood (mean age 10 years)

•

en:one patient has been reported (as of sept 2011)

•

en:onset late childhood

•

en:onset of disease within the first year of life

•

en:onset of deafness in early childhood

•

en:onset of choreoathetosis in childhood or young adult (6-23 years)

•

en:onset of cataracts in late adolescence

•

en:onset of calf hypotrophy may occur earlier

•

en:onset of ataxia between 1 and 3 years of age

•

en:onset in second decade or as young adult

•

en:onset in childhood (range 1 to 12 years)

•

en:onset in infancy (average 4 months, but may be earlier)

•

en:onset in first months or years of life

•

en:onset in first 2 decades (range 6 to 15 years)

•

en:onset in early childhood after initial normal development

•

en:onset in early childhood (infancy to 6 years)

•

en:onset in early childhood (2-4 years)

•

en:one patient has been reported (last curated june 2014)

•

en:one patient has been reported (as of march 2011)

•

en:more common in females

•

en:no chronic or permanent liver damage

•

en:mortality, premature

•

en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)

•

en:most common form of bowel obstruction in infancy

•

en:most common inherited ataxia

•

en:most common mutation is leu276ile (606596.0004)

•

en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)

•

en:neonatal and late-infantile onset

•

en:neurologic signs may not be present

•

en:neuromuscular, cardiovascular, and infectious symptoms improve with age

•

en:nonpenetrance has been observed

•

en:nonprogressive hepatic form is less frequent

•

en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome

•

en:normal in neonatal period

•

en:no abdominal symptoms or neurologic symptoms in harderoporphyria

•

en:no predisposition to skin tumor development

•

en:one patient has been reported (as of april 2011)

•

en:one family has been reported (last curated january 2014)

•

en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.

•

en:one french family has been reported (last curated march 2013)

•

en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)

•

en:one family with 6 probands described (as of september 2000)

•

en:one family reported (last curated july 2008)

•

en:one family has been reported (last curated march 2014)

•

en:one family has been reported (last curated january 2010)

•

en:nphp shows autosomal recessive inheritance

•

en:one family had normal cognitive and neurologic development

•

en:one consanguineous turkish family has been reported (last curated november 2014)

•

en:one consanguineous saudi arabian family has been reported (last curated august 2014)

•

en:one consanguineous moroccan family has been reported (as of january 2012)

•

en:often fatal due in infancy due to intractable diarrhea

•

en:occurs in women and is triggered by pregnancy or estrogen therapy

•

en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)

•

en:seizures are usually refractory

•

en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)

•

en:patients have a distinctive shallow u-shaped audiogram

•

en:onset of muscle weakness in fifth decade

•

en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood

•

en:onset of renal dysfunction in early childhood

•

en:onset of spasticity in childhood

•

en:onset of symptoms between ages 3-8 years of age

•

en:onset of visual loss in childhood (around age 5 years)

•

en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)

•

en:onset usually at birth, but may occur later

•

en:onset usually between 30 and 50 years of age

•

en:onset usually in childhood (range 17 months to 39 years)

•

en:onset usually in childhood (range infancy to late childhood)

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

en:other half show head circumference more retarded than height

•

en:patients from old order amish community and turkey have been reported

•

en:patients need support with walking or are wheelchair-bound

•

en:onset of hematologic or cns tumors in the first or second decades of life

•

en:presents at a later age than sporadic wilms tumor

•

en:rarely produces clinical jaundice

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:progressive disease is seen in some patients

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence of 1 in 1,429 in tanzania

•

en:presentation in first year of life

•

en:patients show sorbitol and glycerol intolerance

•

en:precipitating factors - ingestion of wheat gluten, rye, and/or barley

•

en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070

•

en:poor response to acetylcholinesterase inhibitors or cholinergic agents

•

en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)

•

en:perinatal lethal

•

en:patients with atypical form have milder disease, with onset in the first months of life and increased survival

•

en:onset of lipodystrophy later in childhood

•

en:onset of disease in late childhood

•

en:response to benadryl (diphenhydramine)

•

en:onset between ages 5 and 15 years

•

en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)

•

en:one patient has been reported (as of july 2010)

•

en:one patient has been reported (last curated february 2015)

•

en:one patient has been reported (last curated may 2012)

•

en:one patient with additional features of fanconi anemia has been reported

•

en:one spanish family has been reported (last curated august 2014)

•

en:one turkish girl has been reported (last curated april 2013)

•

en:onset 50 to 65 years

•

en:onset 6 months to 2.5 years

•

en:onset 70-90 years

•

en:onset and diagnosis may occur later (after age 20 years)

•

en:onset at birth or in first days or life

•

en:onset between 15 and 27 years

•

en:onset between 6 and 14 years

•

en:onset between age 30-50 years

•

en:onset of disease between 25 and 40 years of age

•

en:onset in second decade, but sometimes earlier

•

en:onset of diabetes in teenage years

•

en:onset of choroideremia in second to third decade

•

en:onset of cardiomyopathy may occur several months after birth

•

en:onset is usually in childhood or adolescence (2 to 18 years)

•

en:onset in young adulthood (range 18 to 23 years)

•

en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)

•

en:onset in neonatal period or infancy

•

en:onset between birth and 3 months of age

•

en:onset in first few years of life

•

en:onset in early infancy, between 2 weeks and 3 months

•

en:onset in early first decade, although some patients have onset at birth or early in infancy

•

en:onset in childhood or adolescence in most patients

•

en:onset in childhood (ages 1.5 to 7 years)

•

en:onset first to seventh decade with 30 to 40 year mode

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:responsive to thiazide diuretics

•

en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)

•

en:variable age at onset (range childhood to adult)

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

en:two pakistani families reported (last curated july 2014)

•

en:two patients from 1 italian family have been reported (as of april 2010)

•

en:two sibs have been reported (last curated july 2013)

•

en:two subtypes - seminoma and nonseminoma

•

en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers

•

en:type iii is intermediate form

•

en:type i has most severe manifestations by age 4-5 years

•

en:ush3 cases account for 40% of all usher patients in finland

•

en:usually fatal

•

en:usually fatal in first 2 decades

•

en:variable age at onset, mostly in third decade (range teenage years to fourth decade)

•

en:variable age at onset of seizures

•

en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes

•

en:variable survival (some neonatal lethality)

•

en:weakness during pregnancy in affected females

•

en:waddling gait, often presenting sign in second year

•

en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment

•

en:very variable phenotype, with some patients having many features and others only a few

•

en:very rare

•

en:vasculitic symptoms are associated with cold exposure (in some patients)

•

en:variable severity that correlates with rate and magnitude of neuronal protein accumulation

•

en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals

•

en:variable severity, ranging from central severe to peripheral to transient

•

en:variable progression rate

•

en:variable ictal semiology

•

en:variable frequency (weekly to yearly)

•

en:variable facial dysmorphic features

•

en:variable expressivity

•

en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form

•

en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects

•

en:see also pgl1 (168000)

•

en:segmental distribution often affecting 1 limb

•

en:seizures become nearly continuous

•

en:seizures last about 30 seconds to 3 minutes

•

en:seizures may occur with illness

•

en:seizure onset in first months or years of life

•

en:severe incapacitation in 10-20 years

•

en:severe infantile form presents before 6 months

•

en:six patients reported (last curated march 2015)

•

en:tooth agenesis ranges from 1 missing tooth to marked oligodontia

•

en:symptoms ameliorate with age

•

en:three patients (2 related) reported (last curated march 2013)

•

en:three forms of cjd: acquired (including variant), sporadic, and inherited

•

en:thiamine supplementation may be beneficial

•

en:symptoms usually appear in adulthood

•

en:symptoms may be exacerbated by pregnancy or trauma

•

en:survival greater than one year rare

•

en:some carrier females have mild features

•

en:subtle personality and behavioral changes are presenting signs

•

en:spontaneous tumor regression may occur

•

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

•

en:some patients show infantile onset

•

en:some patients require insulin for treatment

•

en:some patients have resolution of symptoms in first year of life

•

en:one japanese family has been reported (last curated december 2014)

•

en:one family has been reported with limited clinical information (last curated october 2014)

•

en:allelic to usher syndrome, type id (601067)

•

en:episodes are triggered by hunger, fatigue, cold, stress

•

en:death within several months if untreated

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:deletion sizes range from 287kb to 4.4mb

•

en:deposits may recur in graft after corneal transplantation

•

en:diagnosis in the second decade of life

•

en:distinctive and stereotyped sequence of events

•

en:distinct disorder from galactosemia (230400)

•

en:diurnal fluctuation of neurologic symptoms

•

en:earlier onset is associated with a more severe disorder

•

en:earlier onset may occur

•

en:early age of onset, usually less than 3 years

•

en:early death

•

en:early onset (9-48 years, but reported up to 68 years)

•

en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported

•

en:episodes occur 30 minutes to 3 hours after exposure to cold

•

en:death usually associated with cardiogenic shock preceded by arrhythmia

•

en:female to male ratio ranges from 2:1 to 4:1

•

en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

•

en:four major groups: early infantile, late infantile, juvenile, adult

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

en:forty percent of patients die in the first year

•

en:few familial (parent offspring) cases reported

•

en:female carriers may be affected

•

en:episodes tend to decrease with age

•

en:females are most often affected, but rare male cases have been reported

•

en:favorable response to treatment with minocycline or azithromycin

•

en:favorable response to l-dopa without side effects

•

en:favorable response to immunotherapy

•

en:estimated incidence of 1-2 in 10,000

•

en:episode frequency is monthly to yearly, and decreases with age

•

en:death usually in infancy due to respiratory failure

•

en:death in fourth to fifth decade

•

en:fractures often heal without deformity

•

en:based on report of 2 families (last curated january 2014)

•

en:all cases have been sporadic

•

en:ambulation is usually maintained during adulthood

•

en:amelioration with age

•

en:antenatal onset

•

en:associated with deletion at chromosome 2q37

•

en:associated with untreated phenylketonuria (261600)

•

en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.

•

en:ataxia is slowly progressive

•

en:attacks triggered by catabolic stress, such as fever or illness

•

en:autosomal recessive cytochrome b-positive cgd, type i

•

en:autosomal recessive inheritance is most common

•

en:average age at onset 38 years

•

en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)

•

en:based on report of 1 saudi arabian family (last curated february 2015)

•

en:behavioral problems including stubbornness and rage

•

en:death at 20 to 40 years

•

en:childhood or adolescent onset, protracted, with myopathy and neuropathy

•

en:death at 10 to 15 years

•

en:contiguous gene deletion syndrome

•

en:conduction defect is progressive

•

en:common (up to 7% of the population)

•

en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)

•

en:clinical improvement after 2 to 3 weeks of supportive care

•

en:changes more marked in hands than feet

•

en:benign trait

•

en:cerebellar ataxia shows onset in young adulthood

•

en:carrier females may show neuropsychologic impairment

•

en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.

•

en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome

•

en:broad range in severity of presentation in sibships

•

en:blisters are precipitated by minor skin trauma

•

en:gei (gene-environment interaction) - association of cardiac events with drug administration

•

en:one family has been reported (last curated june 2014)

•

en:most have resolution of symptoms between 6 and 12 months

•

en:may be asymptomatic

•

en:may be due to imprinting defect

•

en:may fade with age

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:may or may not be responsive to pyridoxine (vitamin b6) treatment

•

en:mean age at onset 24 years (range 14 to 33 years)

•

en:mean age at onset of migraines is 42 years

•

en:mean survival 5 months

•

en:median age at diagnosis, 59 years

•

en:mild cases show clinical, biochemical, and mri improvement after the second year of life

•

en:mild symptoms may occur in teenage years

•

en:mortality approximately 20% in first 2 years

•

en:most case are sporadic

•

en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)

•

en:most patients need hip replacement by their mid-thirties

•

en:many cases due to de novo mutation

•

en:observed in individuals of bulgarian roma bowlmaker ethnic group

•

en:one family has been reported (last curated august 2013)

•

en:one family has been reported (as of curation date may, 2013) onset in infancy

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

en:often results in death in childhood

•

en:often diagnosed between ages 3-4 months

•

en:occurs in ~3% pregnancies in western populations

•

en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene

•

en:most patients show early childhood onset after a period of normal development

•

en:no abnormalities of hair, teeth, or bones

•

en:normal development until onset of seizures

•

en:neonatal/infantile death in most patients

•

en:multiple gene loci involved in causation of schizophrenia

•

en:motor symptoms are variable

•

en:most types show autosomal dominant inheritance

•

en:marked heterogeneity

•

en:major fluid shifts may occur in severe cases

•

en:genetic heterogeneity (see 192600)

•

en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)

•

en:icelandic families

•

en:hypogonadism reported in a large swedish kindred

•

en:high incidence of e. coli sepsis in untreated neonates

•

en:high incidence among ashkenazi jews

•

en:highly variable phenotype and severity

•

en:highly variable clinical phenotype

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

en:incidence of 1 in 10,000 to 1 in 20,000

•

en:hearing loss ma be fluctuating or progressive

•

en:genetic heterogeneity of waardenburg syndrome type 2

•

en:genetic heterogeneity (see madb, 608612)

•

en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)

•

en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)

•

en:genetic heterogeneity (see 608638)

•

en:incidence of 12.2 per 100,000 in finland

•

en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region

•

en:major cause of death is heart failure

•

en:leg pain during childhood

•

en:majority of cases sporadic

•

en:madelung deformity more frequent and more severe in females

•

en:loss of independent ambulation (in 2 of 3 patients)

•

en:loss of ambulation

•

en:long headache duration (greater than 12 hours)

•

en:longer disease duration than creutzfeldt-jakob disease

•

en:involuntary and nonvolitional phenomenon

•

en:incidence of 1 in 3,500 boys

•

en:intelligence is normal

•

en:increased susceptibility to neisseria infections

•

en:increased risk of bilateral breast cancer

•

en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease

•

en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946597 • caches: c1=44 c2=2131 c3=1088

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