Diko : en:late-adult onset (fifth to sixth decade)

en:late-adult onset (fifth to sixth decade)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1834025

Associations d'idées

[F]

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1000

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

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en:full recovery after attacks

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en:t-cell lymphopenia is more severe early in life

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en:some features may be progressive

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en:patients of brazilian origin have a pure cerebellar atrophy

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en:onset of optic atrophy in first decade

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en:onset of muscle weakness around age 5 years

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en:onset birth to 6 months

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en:onset at 4 years of age

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en:one family with 2 affected brothers has been reported (last curated november 2012)

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

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en:mean age at onset 28 years

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en:may be same entity as elejalde syndrome (256710)

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en:marked favorable response to l-dopa treatment

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en:increased risk of early death

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en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births

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

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

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en:death often occurs in childhood

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en:death in infancy, usually from sepsis, dehydration, or acidosis

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en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome

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en:caused by paternally-inherited inactivating gnas1 mutations

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en:can be asymptomatic

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

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en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

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en:allelic to dyggve-melchior-clausen disease (223800)

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en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

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en:adult onset (range 19 to 48 years)

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en:80% cases new mutations

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en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:usually begins in feet and legs (peroneal distribution)

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

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en:massive aortic aneurysm can cause airway compression in affected infants

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en:progressive renal disorder

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en:mean age at onset of bone fractures, 24 years

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

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en:onset from birth

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en:onset in second to fourth decade

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en:patients are often asymptomatic

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en:patients with medication-resistant hypertension require bilateral adrenalectomy

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en:renal involvement and coloboma may not be present

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

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en:reticulate hyperpigmentation onset birth - 2 years

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en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders

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en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)

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en:variable phenotypic expression within same individual in each eye (in some patients)

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en:symptoms typically begin in childhood

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

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en:juvenile form has onset between 4 and 19 years

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en:symptoms progress with worsening myopathy

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en:infantile form has onset within first 6 months of life

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en:average age at death is 37 years

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en:increased rate of miscarriage in affected individuals

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en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:about a dozen patients have been reported (as of march 2012)

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en:age at diagnosis 26 +/- 14 years for recessive disease

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en:autosomal dominant inheritance has been reported

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en:autosomal recessive inheritance with earlier onset has been suggested

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en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:based on 3 patients from 2 families (last curated january 2015)

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en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)

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en:bone anomalies may be seen on prenatal ultrasound (in some patients)

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en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

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en:dopa-responsive rigidity

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en:based on report of 2 unrelated patients (last curated february 2016)

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en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients

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en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

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en:prominent psychiatric symptoms

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en:risk of sudden death due to cardiac defects

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en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)

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en:some patients do not develop stroke

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en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger

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en:variable age at onset (range infancy to young adult)

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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:adult onset (37 to 57 years)

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en:onset at 2 to 4 years

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en:onset before age 20

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en:distinct disorder from myasthenia gravis (mg, 254200)

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en:one patient has been reported (last curated november 2010)

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

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en:no preceding skin inflammatory stage

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en:nonprogressive hepatic form is less frequent

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en:nails appear normal at birth, with dystrophic changes developing within the first decade of life

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

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en:highly variable expressivity within families

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en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)

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en:death usually due to respiratory failure

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en:death often in early childhood

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en:death in infancy due to hyperthermia or apnea

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en:approximately half of patients need ambulatory support after the fifth decade

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en:first name:pn:pt:^guardian or legally authorized representative:nom

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en:allelic disorder to northern epilepsy (610003)

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en:allelic disorder to autosomal dominant form (129490)

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en:younger onset rarely reported

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en:almost all patients require total parenteral nutrition

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en:onset of neurologic symptoms often by 30 months

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en:type 1 - associated with osteogenesis imperfecta (125490)

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en:two main presentations

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en:treatment with betaine, especially for pyridoxine nonresponders

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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:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient

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en:some patients have a milder nonprogressive phenotype

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en:seizures become nearly continuous

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en:phenotypic overlap with parkinson disease

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en:patients may be asymptomatic, but are at risk for metabolic decompensation

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en:onset usually in early childhood, although ranges from birth to adulthood

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en:onset of symptoms in childhood with stiff, painful joints

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en:surgical intervention is not always curative

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en:onset in childhood or teenage years (7 to 16 years)

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en:genetic heterogeneity (see etl2, 608096)

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en:one family reported (last curated may 2013)

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en:based on one 4-generation german family (last curated august 2015)

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en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product

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en:death in first-second decade of life secondary to cardio-respiratory compromise

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en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

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en:variable response to steroid treatment

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en:hearing loss is congenital and nonprogressive

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en:hepatic failure develops in first months of life

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en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome

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en:most carrier females have mild mental retardation and subtle facial changes

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en:neonatal onset

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en:newborn period is critical for survival

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en:one 3-generation italian family has been described (last curated august 2015)

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en:many patients recover normally

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en:risk haplotype found in dutch families

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en:rapid disease progression

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en:prevalent among patients of asian descent, particularly japanese

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en:patients may show normal development

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en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')

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en:often results in death in childhood

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en:most common form of childhood idiopathic epilepsy

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en:may not be clinically manifest until middle life

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en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)

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en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features

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

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en:genetic heterogeneity, see mgr1 (157300)

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en:favorable response to hydroxychloroquine treatment

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en:favorable response to bh4

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en:estimated carrier frequency 1/100

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en:congenital or early onset hearing loss

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en:allelic disorder to juvenile nephronophthisis-1 (256100)

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en:adult onset of symptoms has been reported

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en:skewed x-inactivation, with complete skewing in some individuals

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en:torso and upper body remain normal in shape and contour

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en:14 patients in 8 recessive kindreds reported (as of february 2012)

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en:onset of motor disturbances in childhood

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en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)

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en:variable age at onset, but most often in the first 2 decades

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en:two patients have been reported

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en:seizures and cognitive involvement are variable findings

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en:pigmented spots appear in infancy through childhood and fade in adulthood

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en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable

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en:onset usually at birth

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en:onset of peripheral neuropathy ranges from childhood to mid-adulthood

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en:tremor is aggravated by emotional stress

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en:onset in third or fourth decades

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en:marked intrafamilial and interfamilial variability

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en:incomplete penetrance (about 80%)

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en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures

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en:episodic

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en:diagnosis occurs between 23 and 33 weeks' gestation

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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

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en:autonomic symptoms occur with headaches

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en:median survival 5.7 years

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en:allelic to infantile sialic acid storage disorder (269920)

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en:prevalence of essential tremor ranges from 0.4 to 6% in the general population

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en:onset of dysmorphic features and developmental delay in infancy

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en:onset of sleepwalking between 4 and 8 years old

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en:onset usually in adolescence

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en:part of 'dent disease complex'

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en:possible genetic heterogeneity (linkage to xp22 in some families)

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en:type iiib liver involvement only (15% of all cases)

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

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en:seizure frequency decreases during early childhood

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en:slow or nonprogressive

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en:xy karyotype

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en:figure associated with report or note:-:point in time:^patient:-

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en:n-myc oncogene (164840) amplification is associated with poor prognosis

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en:no dysmorphic features

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

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

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en:median life expectancy, 13.4 years

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en:may progress to upper limbs

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en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation

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en:incidence of 1 in 300,000

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en:hhs is a more severe variant, often resulting in death in childhood

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en:heterozygotes may exhibit syndromic manifestations

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en:early-onset associated with more severe course and early death

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en:earlier onset may occur

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en:disease steadily progressive

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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:age of onset from 18 to 45 years

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en:46,xy carriers are unaffected

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en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl

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en:age of onset within the first years of life

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en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:increased paternal age

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en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900)

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en:most patients die in childhood

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en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)

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en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)

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en:symptoms present as acute metabolic and clinical decompensation associated with infection

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en:single lesions in sporadic cases

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en:repeat is unstable if > 52 repeats

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en:prevalence of sleep terrors about 3% in children

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en:prevalence of 1 in 100,000

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en:patients remain ambulatory

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en:patients have a distinctive shallow u-shaped audiogram

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en:other muscle become involved about 5 years after onset

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en:onset of optic atrophy in childhood

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

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en:nyctalopia is a later feature of the disorder

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en:non-progressive and more severe progressive forms

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en:three out of 4 reported patients died (last curated may 2014)

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en:more severe in males than in females

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en:favorable response to treatment with coenzyme q10

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en:mean age at termination 3 to 4 years

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en:a nonspecific marker of somatic mosaicism

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en:based on one italian family (last curated august 2015)

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en:contiguous gene deletion syndrome (in most patients)

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en:all reported mutations have occurred de novo

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en:favorable response to anticonvulsants

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

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en:global developmental delay

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en:good response to gaba-enhancing medications

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en:highly variable expression

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en:high prevalence in the east asian population

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en:variable age at onset (range teenage to adult years)

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en:juvenile absence epilepsy (jae, 607631)

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en:inflammatory bowel disease may develop in childhood or adolescence

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en:majority of cases diagnosed at age 10-15 years

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en:males may be more affected than females

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en:male patients have more severe disease than female patients

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en:mean age of death is 34 years

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

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en:most severe form of gaucher disease

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en:murcs association

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en:one consanguineous pakistani family has been reported (last curated march 2016)

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

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en:one family with a cacna1b mutation has been reported (last curated march 2015)

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en:onset 6 to 30 years

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en:heterozygous mutation carriers may have late-onset of mild symptoms

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en:high prevalence in japan

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en:caused by inheritance of the mutation on the maternal allele (imprinting)

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en:heterozygous females may exhibit variable degrees of enzyme deficiency

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en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood

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en:genetic heterogeneity (see ebn2 121201, ebn3 608217)

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en:females demonstrate lyonization with corresponding phenotypic variation

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en:early onset (1 month to 4 years)

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en:classical form (type i), less severe with survival into adulthood

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en:blisters are precipitated by minor skin trauma

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en:autosomal recessive cytochrome b-negative cgd (233690)

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en:all affected individuals have been stillborn or died in the neonatal period

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en:age of onset, 6-20 years

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en:adult onset (third decade)

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en:2% due to paternal uniparental disomy of 15q11.2-q13

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en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:onset of acne in adolescence, persists into adulthood

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en:onset in childhood (range 4 to 12 years)

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en:based on report of 1 japanese family (last curated november 2013)

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en:onset of deafness and diabetes in adulthood

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en:four cases have been reported, all female

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en:patients become wheelchair-bound about 10 years after onset

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en:visual impairment is present at birth and is progressive

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en:two sibs died before 2 years of age

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en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause

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en:residual neurologic deficits are slowly progressive

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en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)

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en:onset of tumors usually in adulthood

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en:onset between 1-3 years

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en:normal ability to tolerate heat

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en:most patients have severe streptococcus pneumoniae infections

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en:liver failure episodes cease in later childhood

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en:increased prevalence among women

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en:hyperpigmented patches increased in size and number with age

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en:high frequency in finnish population

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en:variable expressivity of each feature

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en:death before age 3 years

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en:death at 13 to 30 years

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en:severe ambulatory restriction

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en:six genetically confirmed patients have been reported (as of december 2009)

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en:skin lesions exacerbated by heat, exercise (sweating), and sunlight

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en:symptoms precipitated by sudden movements

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en:visual acuity better than anticipated from ophthalmoscopic appearance

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en:wide spectrum of severity

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

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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:adult onset (25-45 years)

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en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)

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en:alopecia usually occurs around puberty

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en:cataracts develop by second decade of life

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en:one likely consanguineous turkish family has been reported (last curated january 2015)

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en:one patient with severe congenital onset has been reported

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en:onset in first decade (e.g. 180380.0028)

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en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)

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en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation

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en:prevalence of 0.5 to 1 in 1,000

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en:prevalence of 1 in 2,833 in zimbabwe

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en:renal failure in second or third decade

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en:reported in a large hutterite family

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

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en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)

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

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en:death occurs in second or third decade

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en:natural aversion to carbohydrates and favoring of protein

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en:mean age of onset 50.2 years

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en:mean age of onset 30 years

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en:hypotonia may respond to treatment with pyridostigmine

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en:hearing loss ma be fluctuating or progressive

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en:end-stage renal failure in first decade

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en:electrolyte imbalances can mimic renal bartter syndrome (601678)

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en:complete penetrance but extreme variability of phenotypic expression

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en:carrier frequency 1:1,000 in french-canadians in quebec

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en:autosomal recessive cytochrome b-positive cgd, type i (233700)

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en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)

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en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

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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:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:two sisters have been reported (last curated february 2015)

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en:associated with deletion at chromosome 2q37

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en:acute attacks rarely occur before puberty

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en:onset 5 to 7 years

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en:vhl type 2a - hemangioblastoma and pheochromocytoma

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en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)

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

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en:upper limb involvement in first decade

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en:twelve or more lesions per eye in individuals over 60 years of age

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en:symptoms usually induced only by strenuous exercise

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en:seizures may remit later in childhood

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en:relief is achieved by cooling or by elevating the extremities

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en:onset of bleeding symptoms in childhood or young adulthood

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en:onset in childhood, but most noticeable in mid-teens and early adulthood

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en:variable age of onset of renal manifestations

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en:occurs at age 20-50 years

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en:duane anomaly is not always present

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en:manifestations present in second decade of life

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en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)

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en:based on report of 2 affected brothers in 1 family (last curated october 2015)

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en:complementation groups - complementation group a (classic mliii, 252600)

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en:antibodies can develop after pregnancy or transfusion

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en:early death (usually by 3 years of age)

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en:incidence of 1 in 1,000,000

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en:incidence of 1 in 276,000 in the netherlands

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en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)

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en:inborn error of the pyrimidine degradation pathway

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en:limited clinical information provided

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en:onset of seizures between 8 and 11 months of age

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en:most patients die in the neonatal period due to respiratory insufficiency

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en:onset in first month of life

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en:onset in late teens to twenties

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en:skeletal abnormalities are variable

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en:reported patients are asymptomatic

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

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en:type 2cb is characterized by defective binding affinity for collagen types i and iii

•

en:variable presentation

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en:mean age of onset 18 years

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en:more frequent in individuals of asian descent

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en:fatal in first few months of life in most cases

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en:male to female ratio is greater than 3:1

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en:increased frequency among individuals of ashkenazi jewish descent

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en:immunologic defects are variable

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en:genetic heterogeneity of axonal cmt (see cmt2a 118210)

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en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2

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en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)

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en:based on four patients in a four generation family

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en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)

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en:adult onset (mean 27 years)

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

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en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:visual symptoms present by late childhood

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en:variable response to vitamin b12 therapy

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en:one indian family has been reported (as of october 2011)

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en:patient satisfaction with healthcare delivery:score:pt:^patient:qn

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en:males are more severely affected than females

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

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en:tremor may be elicited by movement or postural maintenance

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en:secondary tumors develop within the skin lesions

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en:phenotypic heterogeneity

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en:onset of symptoms usually between 12-15 years

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en:onset of symptoms in adolescence or early adulthood

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en:onset of disease 3-30 years

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en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:multiple congenital anomalies

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en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy

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en:many patients become wheelchair-bound

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en:onset in early childhood (infancy to age 7 years)

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en:laryngeal edema can result in asphyxiation

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en:allelic to enhanced s-cone syndrome (268100)

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en:febrile attacks disappear in adulthood in some patients

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en:age of onset 28 to 70 years

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en:age of onset from third to sixth decade of life

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en:allelic to acrokeratosis verruciformis (101900)

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en:adult onset rarely reported

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

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en:evidence of systemic iron overload seen in 1 family

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en:exacerbations during infection

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en:familial form - constitutional deficiency of vwf-cleaving protease

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en:deletions in naip gene (600355) found in 18% of sma2 patients

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en:onset of alopecia in infancy

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en:possible x-linked inheritance

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en:progressive disorder, usually with rapid, relentless course

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en:ptosis is usually presenting feature

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en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood

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en:skin blistering and photosensitivity improve in adulthood

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en:some patients do not have dysmorphic features

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en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery

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en:twenty-five percent of affected babies are stillborn

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en:onset in infancy or late childhood

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en:onset in neonatal period or early infancy

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en:age at onset 15 to 33 years

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

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

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en:one family has been reported (as of april 2012)

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en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)

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en:lower limb weakness is presenting feature

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en:female carriers may have subtle manifestations

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en:diabetes diagnosed in second or third decade of life

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en:death may occur in late childhood

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en:clonazepam and diazepam may be effective in preventing or lessening severity

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en:caused by constitutive activation of the avpr2 receptor

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

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en:based on report of 1 family of german ancestry (last curated december 2014)

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en:typical attacks last from seconds to minutes, but longer occurrences have been reported

•

en:milder expression in female heterozygotes

•

en:variably expressivity

•

en:most patients are female

•

en:absence of premature birth, low birthweight, and exposure to oxygen

•

en:muscular dystrophy, oculopharyngeal

•

en:variable age at onset (range childhood to mid-sixties)

•

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

•

en:two japanese patients have been reported (last curated march 2013)

•

en:rickets and premature primary tooth loss occur in childhood

•

en:recurrence is possible

•

en:periventricular heterotopia (300049) is an allelic disorder

•

en:patients often require implantation of a pacemaker

•

en:onset between 12 and 30 years (average 22)

•

en:one of the 2 most common forms of albinism in the world, along with oca2

•

en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)

•

en:onset in childhood (6-7 years)

•

en:may be seen with other forms of cancer in a family

•

en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures

•

en:affected infants die in neonatal period

•

en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)

•

en:many adults with typical form remain ambulatory

•

en:based on detailed clinical description of 1 family

•

en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)

•

en:based on report of 3 unrelated patients (last curated january 2016)

•

en:based on 1 report of monozygotic twins (last curated may 2014)

•

en:death may occur in childhood due to respiratory failure

•

en:low physical performance

•

en:incomplete penetrance (range 13% to 77% by 50 years of age)

•

en:inheritance may be x-linked dominant

•

en:genetic heterogeneity (see 604559)

•

en:symptoms improve following sleep

•

en:symptoms worsen with fatigue and exercise

•

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

•

en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)

•

en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis

•

en:symptoms are often responsive to alcohol

•

en:recessive inheritance is rare

•

en:sudden death may occur

•

en:successful treatment with oral isotretinoin

•

en:sporadic cases often single lesions versus multiple lesions in familial cases

•

en:spectrum of laterality defects

•

en:three girls from 2 unrelated families have been reported (last curated june 2014)

•

en:three families have been reported (last curated november 2014)

•

en:up to 60% of female mutation carriers develop lobular breast cancer

•

en:three patients from 2 unrelated families have been reported (last curated december 2015)

•

en:three patients have been reported

•

en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult

•

en:trauma, anxiety, and/or stress can precipitate or aggravate edema

•

en:treatment with dichloroacetate (dca) prolongs survival

•

en:tumors usually develop between 40 and 60 years of age

•

en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

•

en:type 2a is characterized by deficiency of high molecular weight monomers

•

en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)

•

en:unusual skill with jigsaw puzzle

•

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

•

en:some patients report increased tolerance to heat

•

en:severe course

•

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

•

en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights

•

en:usually favorable response to treatment

•

en:reduced penetrance (approximately 87%)

•

en:relatives with multiple small congenital pigmented nevi

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)

•

en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability

•

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

•

en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype

•

en:see the more common methemoglobinemia types i and ii (250800)

•

en:seizures and dystonia peak during childhood

•

en:seizures may occur with illness

•

en:some patients may need surgery or renal transplant

•

en:seizures remit spontaneously by age 5 years

•

en:seven patients reported (as of march 2011)

•

en:severe hearing loss by age 50 years

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:skeletal and facial features are variable

•

en:some features are variably expressed

•

en:some patients become bedridden

•

en:some patients become wheelchair-bound in second decade

•

en:some patients do not achieve independent ambulation

•

en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes

•

en:some patients have no clinical symptoms and are detected by routine newborn screening

•

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

•

en:some patients may be asymptomatic and have only short telomeres

•

en:usually fatal by age 5 years

•

en:age of onset varies from 5-32 years of age

•

en:variable age at onset, range infancy to adult

•

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

•

en:affected males have onset of poor vision before the age of 2 years

•

en:age at diagnosis 2-4 months

•

en:age at diagnosis 36 +/- 20 years

•

en:age of onset between 6 and 45 years of age

•

en:rare adult cases reported

•

en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)

•

en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)

•

en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)

•

en:allelic disorder to early-onset sarcoidosis (609464)

•

en:allelic disorder to primary erythermalgia (133020)

•

en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

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

•

en:allelic to kenny-caffey syndrome type 1 (244460)

•

en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)

•

en:affected, mild - 50-150 repeats

•

en:allelic with smith-mccort dysplasia (607326)

•

en:all features are unilateral

•

en:all reported cases have occurred de novo

•

en:associated with fragile x syndrome (309550)

•

en:autosomal dominant with complete penetrance

•

en:autosomal recessive inheritance can occur

•

en:autosomal recessive inheritance has been reported in 1 family

•

en:autosomal recessive inheritance has been suggested

•

en:average age at onset 16.6 years

•

en:average age at onset 31 years (range 7 to 54)

•

en:average age at onset is 24 years (range 4 to 58 years)

•

en:average onset 6 months (range 3-9)

•

en:axial skeleton most commonly affected

•

en:a severe infantile variant has been rarely reported

•

en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene

•

en:adult onset - 100-1,000 repeats

•

en:variable age at onset, usually in first decade, but can occur later

•

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

•

en:variable age at onset (earliest reported 7 years)

•

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

•

en:variable age at onset from childhood to adulthood

•

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

•

en:variable dysmorphic features

•

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

•

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

•

en:variation in slc24a5 has also been associated with variation in skin color (shep4)

•

en:vast majority of heterozygotes are asymptomatic

•

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

•

en:warm weather and alcohol are alleviating factors

•

en:wheelchair use by 10-30 years

•

en:wide range of onset from childhood to adult (10 to 50 years)

•

en:age at menopause:time:point in time:^patient:quantitative

•

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

•

en:adult onset (range 34 to 66 years)

•

en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord

•

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

•

en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:2-3% due to imprinting defects

•

en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)

•

en:25% due to mutations in ube3a (601623)

•

en:35% of patients have facial dysmorphism

•

en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'

•

en:adrenal insufficiency usually develops later (first decade)

•

en:adult-onset in third to fourth decade

•

en:adult onset (before 50 years)

•

en:rare autosomal dominant inheritance has been reported

•

en:onset in second decade or as young adult

•

en:rarely, patients may be asymptomatic

•

en:motor symptoms show mild clinical improvement with levodopa treatment

•

en:mild asymmetric regional disease (e.g. 180380.0029)

•

en:minimum duplication includes bhlha9 (615416)

•

en:most cases result from a de novo mutation

•

en:most common inherited bleeding disorder

•

en:most common subtype of frontotemporal dementia (600274)

•

en:most patients are clinically asymptomatic and show normal development

•

en:most patients are from finland

•

en:most patients die in early childhood

•

en:most patients die in infancy

•

en:most patients remain ambulatory

•

en:motor fluctuations

•

en:motor neuropathy more prominent than sensory neuropathy

•

en:motor symptoms are variable

•

en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)

•

en:median age at diagnosis 7 years

•

en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli

•

en:neurologic involvement may occur in the absence of visceral involvement

•

en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective

•

en:nine patients have been reported (last curated july 2015)

•

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)

•

en:normal alleles have 4 to 18 repeats

•

en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development

•

en:normal first month

•

en:normal sweat electrolytes

•

en:not all patients have skeletal muscle symptoms or mental retardation

•

en:no family history, de novo mutations

•

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

•

en:odor of 'sweaty feet'

•

en:often associated with chiari type i malformation (cm1, 118420)

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:mean age of onset 34 months

•

en:one consanguineous costa rican family has been reported (last curated march 2015)

•

en:lesions appear in infancy or early childhood

•

en:based on report of 2 sibs in 2008

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age

•

en:incidence 1-1.5/1,000 live births

•

en:incidence of 1 in 120,000 live births

•

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

•

en:incidence of all forms of cjd is 0.5 to 1.5 per million per year

•

en:increased abortuses of homozygous or compound heterozygous fetuses

•

en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany

•

en:increased risk of myeloproliferative disorders in those with somatic mutations

•

en:intelligence is normal

•

en:later onset of ophthalmoparesis

•

en:leigh syndrome, x-linked

•

en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness

•

en:lesions occur mainly on the pinnae of the ears or on the face

•

en:mean age at diagnosis is 38 years(range 11-63 years)

•

en:lethal in males

•

en:likely allelic to sc phocomelia syndrome (269000)

•

en:liver disease may be the most predominant finding

•

en:liver failure episodes associated with fever

•

en:luton and torrance type differentiated based on histologic findings in cartilage

•

en:lymphedema resolves by age 3 years

•

en:majority are isolated cases

•

en:majority are stillborn or die in early neonatal period

•

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

•

en:manifestations of cushing syndrome may be mild

•

en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)

•

en:may be fatal

•

en:may be triggered by increased practice

•

en:may be triggered by minor head trauma

•

en:old order amish, african american, and french patients have been described

•

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

•

en:progression of the disorder is precipitated by viral symptoms

•

en:patients may die in infancy or childhood due to respiratory failure

•

en:onset of spasticity in childhood

•

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

•

en:onset of symptoms in childhood

•

en:onset of symptoms in fifth decade

•

en:onset of symptoms in the fourth to sixth decade of life

•

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

•

en:onset ranges from young adulthood to sixties

•

en:onset usually before age 40 years

•

en:onset usually in second decade of life, although earlier and later onset have been reported

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

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

•

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

•

en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

•

en:patients require achilles tendon lengthening in first or second decade of life

•

en:onset of proteinuria in the third to fourth decades

•

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

•

en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

•

en:patients with null mutations have neonatal onset within 72 hours of birth

•

en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes

•

en:persistent bleeding after trauma

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:precipitated by fever

•

en:premature aging syndrome

•

en:prenatal or neonatal onset

•

en:presentation between 6-18 months

•

en:presentation in childhood includes waddling gait and knee pain/stiffness

•

en:prevalence approximately 1 in 4,000 males

•

en:prevalence in poland is 1 in 129,000

•

en:prevalence of 1 in 40,000

•

en:onset of seizures in first months of life (usually 4 to 7 months)

•

en:onset of progressive spastic paraplegia in childhood

•

en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)

•

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

•

en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)

•

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

•

en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)

•

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

•

en:one of the 2 most common forms of oca in the world along with oca1

•

en:one patient died at 17 months of age

•

en:one patient has been reported

•

en:one patient with a homozygous mutation has been reported (as of 14 june 2011)

•

en:one report of brother and sister from nonconsanguineous parents

•

en:onset 23 to 30 years

•

en:onset at birth or in first months of life

•

en:onset between 6 and 16 years of age

•

en:onset birth to early infancy

•

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

•

en:onset in childhood or adolescence in most patients

•

en:onset of lipodystrophy later in childhood

•

en:onset in childhood or early adolescence

•

en:onset in first 6 months of life

•

en:onset in first decade of life

•

en:onset in first months of life

•

en:onset in first or second decade (range 4 to 13 years)

•

en:onset in late twenties to thirties

•

en:onset in second and third decades of life

•

en:onset in second to fifth decade

•

en:onset in teens or early twenties

•

en:onset in the first hours or days of life

•

en:onset in utero or at birth

•

en:onset may also occur in early infancy, adolescence, or adulthood

•

en:onset of acanthosis nigricans in childhood or by puberty

•

en:onset of essential tremor between 16 and 44 years

•

en:based on 2 siblings in a consanguineous family (last curated august 2015)

•

en:there are several subtypes

•

en:based on report of a chinese father and son (last curated may 2015)

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:onset of bone disease in second decade (range 18-44 years)

•

en:onset of cardiac symptoms in adolescence

•

en:onset of chronic progressive polyneuropathy in late childhood

•

en:onset of disease 7 months to 3 years

•

en:onset of hearing loss prior to or during adolescence

•

en:onset of insulin resistance may occur in childhood

•

en:onset of lymphedema before puberty

•

en:onset of major clinical features in young adulthood

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:onset of seizures in later childhood (5 to 10 years)

•

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

•

en:onset usually in first to third decade of life

•

en:onset within first year of life

•

en:paternal anticipation bias

•

en:onset in the first months of life (3 to 7 months)

•

en:patients need lifelong total parenteral nutrition

•

en:patients retain ambulation even after long disease course

•

en:patients with residual enzyme activity have childhood or adult onset

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:phenotype may or may not be consistent within a family.

•

en:poor response to acetylcholinesterase inhibitors or cholinergic agents

•

en:possible favorable response to ketogenic diet

•

en:preaxial involvement in approximately 60% of patients

•

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

•

en:preferably treated with iodine supplementation rather than thyroid hormone replacement

•

en:prenatal or perinatal death

•

en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

•

en:prevalence of 1 in 1,429 in tanzania

•

en:prevalence of 1 in 240 zuni indians

•

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

•

en:onset in teenage or young adult years

•

en:progressive disease is seen in some patients

•

en:onset about 6 months of age after normal growth and development in the first few months of life

•

en:one family of french-canadian origin has been reported (last curated august 2014)

•

en:one family reported with piezo2 mutation (last curated january 2015)

•

en:one family with 3 affected girls has been reported (as of october 2011)

•

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

•

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

•

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

•

en:one patient has been reported (last curated november 2013)

•

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

•

en:one patient with episodic ataxia and later onset has been reported (as of june 2010)

•

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

•

en:one patient with unrelated german parents has been reported (last curated february 2016)

•

en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis

•

en:onset 50 to 65 years

•

en:onset before age 20 years

•

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

•

en:onset between 15 and 27 years

•

en:onset between 35-43 years of age

•

en:onset between 7 and 27 years of age

•

en:onset between the second and sixth decades

•

en:onset in adolescence to early adulthood

•

en:onset in childhood (range 2 to 16 years)

•

en:onset in early adulthood (average 26 years)

•

en:onset in early childhood (4 to 5 years)

•

en:onset in feet and legs (peroneal distribution)

•

en:onset in first 2 decades

•

en:onset in first decade after normal early development

•

en:onset in fourth to sixth decades

•

en:onset in infancy or early childhood

•

en:onset in late twenties

•

en:prevalence of 1 in 50,000-70,000 live births

•

en:protein c deficiency is found in 3-4% of patients with venous thromboembolism

•

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

•

en:type 2n shows autosomal recessive inheritance

•

en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age

•

en:tumors may show spontaneous regression

•

en:two families have been reported (last curated april 2014)

•

en:two families have been reported (september 2010)

•

en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty

•

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

•

en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)

•

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

•

en:type iii is intermediate form

•

en:usually poor response to steroid treatment

•

en:usually sporadic, few cases described with autosomal dominant inheritance

•

en:variable age at onset, infancy to adulthood

•

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

•

en:variable age at onset, ranging from 18 months to 27 years

•

en:variable age at onset (range 10 to 50 years)

•

en:variable age of onset

•

en:variable age of onset (20 to 35 years old)

•

en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:variable severity, correlates with age at onset

•

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

•

en:women are more often affected

•

en:worldwide frequency of 1 in 100,000 infants

•

en:worldwide incidence of 1 in 185,000 live births

•

en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides

•

en:three patients reported, one with a wdpcp mutation (last curated january 2015)

•

en:psychomotor delay may already be apparent at onset of seizures

•

en:severe form with onset at 3 to 4 months of age and severe developmental delay

•

en:pulsatile headache lasts hours to days

•

en:rapidly progressive episodes

•

en:recurrent acute episodes

•

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

•

en:retinal holes were present in an asymptomatic female carrier

•

en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)

•

en:segmental distribution often affecting 1 limb

•

en:seizures are refractory to treatment

•

en:seizures usually occur in the first months of life

•

en:severity of phenotype is not related to residual enzyme activity

•

en:symptoms relieved by progesterone antagonist (in some patients)

•

en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)

•

en:sleep terrors usually remit during adolescence

•

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

•

en:somatic or germline mosaicism may occur

•

en:some carrier females have episodes of significant hyperammonemia in infancy or childhood

•

en:some patients have only ocular involvement or only oral involvement

•

en:some patients never achieve walking or running

•

en:some patients show no bleeding abnormalities

•

en:spinal tumors are necessary for diagnosis

•

en:spontaneous tumor regression may occur

•

en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons

•

en:survival to 20 years in severe form

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness

•

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

•

en:one family and an unrelated patient have been reported (last curated january 2016)

•

en:begins in feet and legs (peroneal distribution)

•

en:favorable response to antibodies against tnf-alpha (tnfa, 191160)

•

en:early death occurs in affected infants (days to months after disease onset)

•

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

•

en:echocardiogram and ophthalmologic examination normal

•

en:epiphyseal stippling is gone by 8 months of age

•

en:episodes last 1 to 2 days

•

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

•

en:erythema often triggered by sudden temperature change or emotional stress

•

en:estimated carrier frequency in charlevoix-saguenay region is 1/22

•

en:estimated frequency 1/2000-1/4000 individuals

•

en:estimated gene carrier frequency of 1 in 5,000

•

en:fatal if renal transplant is not performed

•

en:fatal outcome if untreated

•

en:favorable response to alcohol

•

en:favorable response to oral bile acid therapy

•

en:diurnal fluctuation

•

en:feet are unaffected

•

en:females carriers have more variable age at onset and severity

•

en:female to male ratio, 1:1

•

en:fever of unknown origin

•

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

•

en:following fever in infancy, muscular weakness and poor growth

•

en:four patients from 3 families have been reported (last curated september 2014)

•

en:four patients from 3 unrelated families have been reported (last curated july 2012)

•

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

•

en:fractures can occur in utero, during labor and delivery, or in newborn period

•

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

•

en:generally mild phenotype

•

en:dysmorphic facial features are subtle

•

en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)

•

en:genetic heterogeneity (see, e.g., 600795, 105550)

•

en:complete penetrance

•

en:benign condition

•

en:blistering frequency may decrease with age

•

en:both reported cases survived beyond infancy

•

en:brain anomalies variable

•

en:can be categorized into 3 groups

•

en:carrier frequency 1:200,000 in france

•

en:carrier frequency in finland 1/40

•

en:characteristic facial features become more apparent with age

•

en:cheerful disposition

•

en:chromosome rearrangements have been reported

•

en:clinical severity varies

•

en:clinical variation

•

en:clonidine can alleviate hyperhidrosis

•

en:complementation group c (variant mliii, 252605)

•

en:congenital onset

•

en:disease is life-threatening if untreated

•

en:considered a normal variant

•

en:death in early infancy

•

en:death in infancy

•

en:death in neonatal period

•

en:death occurs early in neonatal period due to respiratory failure

•

en:death often in infancy

•

en:death secondary to respiratory insufficiency

•

en:death usually in infancy due to respiratory failure

•

en:decreased bilirubin concentration with phenobarbital administration

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:described in single afrikaner family

•

en:de novo mutation in some cases

•

en:diagnosis in seventh decade of life

•

en:diagnosis made if 3/7 defects are present

•

en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs

•

en:genetic heterogeneity (see bafme2, 607876)

•

en:one family and 1 unrelated patient have been reported (last curated july 2013)

•

en:nails, palms, and soles are spared in some patients

•

en:mean age at onset 41 years (range 18 to 61)

•

en:mean age of onset 16 to 19 years

•

en:mean age of onset 20.6 years

•

en:mean age of onset 22 years (range 5-54)

•

en:mild involvement of face and arms

•

en:most cases are isolated

•

en:most common mutation is leu276ile (606596.0004)

•

en:most patients are severely affected

•

en:most patients have adult onset of symptoms

•

en:most patients present in infancy with anemia

•

en:most pregnancies with affected fetuses resulted in elective termination

•

en:motor skills less affected than cognitive skills

•

en:myoclonus occurs at rest and with action

•

en:near-normoglycemic remission for period of months to years without insulin treatment

•

en:major fetal plasma protein produced by yolk sac and liver

•

en:neonatal and late-infantile onset

•

en:neurologic features are variable and not progressive

•

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

•

en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur

•

en:non-tender

•

en:normal development between episodes

•

en:normal development until onset of seizures

•

en:noted in early childhood in most patients

•

en:no consistent dysmorphic facial phenotype

•

en:no history of familial hypercholesterolemia

•

en:oculomotor apraxia is not always present

•

en:one consanguineous arab family has been reported (last curated july 2015)

•

en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)

•

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

•

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

•

en:majority of patients from italy and southwestern united states

•

en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)

•

en:incidence of 1 in 320,000 births among non-jewish persons

•

en:genetic heterogeneity (see pfm1, 168500)

•

en:genetic heterogeneity (see rmd, 606072)

•

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

•

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

•

en:heterozygous females more mildly affected than hemizygous males

•

en:heterozygous female carriers may manifest symptoms

•

en:heterozygous mutation carriers may have late-onset cardiac arrhythmias

•

en:highly penetrant, but low morbidity

•

en:highly variable clinical and immunologic phenotype

•

en:highly variable phenotype and severity

•

en:hip replacement in early adulthood

•

en:homozygotes have more severe disease with earlier onset of thrombosis

•

en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals

•

en:majority of cases have bilateral involvement

•

en:incomplete penetrance with 45 to 51 repeats

•

en:increased frequency in individuals originating from western scotland

•

en:increased frequency in the state of bahia, brazil

•

en:increased prevalence among smokers

•

en:infants show normal size and appearance

•

en:infections may precipitate ketotic episodes

•

en:initially normal for first 6-18 months which is then followed by withdrawal and regression

•

en:isolated finding

•

en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france

•

en:laboratory findings are variable

•

en:later onset has been reported

•

en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)

•

en:linked to 10q24 trisomy

•

en:lower limbs more severely affected

•

en:highly variable phenotype, ranging from asymptomatic to death by age 3 years

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946751 • caches: c1=36 c2=1295 c3=61

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