Le Diko - en:facial dysmorphic features are mild

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Le Diko - en:facial dysmorphic features are mild

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en:facial dysmorphic features are mild

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:two unrelated families have been reported (last curated august 2013)

•

en:genetic heterogeneity of waardenburg syndrome type 2

•

en:psychiatric symptoms may be the presenting sign

•

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

•

en:onset of seizures before age 2 years

•

en:onset of alopecia in infancy

•

en:onset before age 2 years

•

en:onset after puberty

•

en:mean age at resolution of symptoms 10 years

•

en:males tend to have earlier onset than females

•

en:male-to-female ratio of 3:2 in childhood cases

•

en:majority of cases are male

•

en:incidence of 1 in 100,000

•

en:heterozygous mutation present in 5-7% of the japanese population

•

en:generalized dystonia in some cases

•

en:slight male predominance (3:2)

•

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

•

•

en:favoring of fat and protein

•

en:end-stage renal failure may occur

•

en:described in families from galicia, spain

•

en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400

•

en:associated with advanced paternal age

•

en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)

•

en:allelic to neurofibromatosis-1 (nf1, 162200)

•

en:age at onset ranges from 16 years to 65 years

•

en:about 8% of female mutation carriers develop dilated cardiomyopathy

•

en:laboratory director name:pn:pt:provider:nom

•

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

•

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

•

en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)

•

en:splenectomy increases thrombotic risk in these patients

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:surviving infants develop severe nonbullous ichthyosiform erythroderma

•

en:regression in infancy (in some patients)

•

en:progressive clinical course with onset in childhood

•

en:onset of symptoms in early childhood in most patients

•

en:onset in childhood (6-7 years)

•

en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)

•

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

•

en:neurologic signs are present in the neonatal period only

•

en:late-adult onset

•

en:increased recurrence risk with parental translocation

•

en:incidence of 1 in 57,000

•

en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin

•

en:seizures are poorly responsive to treatment

•

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

•

en:carrier females are normal

•

en:frequency 1/100,000 - 1/130,000 live births

•

en:two unrelated patients have been reported (last curated december 2013)

•

en:age at first pregnancy:time:point in time:^patient:quantitative

•

en:affects up to 10% of the population

•

en:allelic disorder to androgen insensitivity syndrome (ais, 300068)

•

en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance

•

en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)

•

en:early age of onset

•

en:facial dysmorphism is age-related and alters substantially over time

•

en:five patients reported (as of march 2009)

•

en:disease usually progresses in a cephalocaudal direction

•

en:severe course

•

en:pneumocytosis carinii infection (12 to 42%)

•

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

•

en:see also pgl1 (168000)

•

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

•

en:severity of phenotype may vary with x-inactivation patterns and/or mutation type

•

en:skin and hair abnormalities apparent at birth

•

en:some patients show rapid disease progression

•

en:variable response to levodopa treatment

•

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

•

en:onset of hemolytic anemia shortly after birth

•

en:onset usually in adulthood although childhood onset has been reported

•

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

•

en:nonprogressive hepatic form is less frequent

•

en:mechanical ventilation may be required

•

en:mean duration of symptoms 4.2 plus or minus 2.4 years

•

en:mean age at onset 22 years (range 7 to 50 years)

•

en:limb malformations are variable

•

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

•

en:based on 13 patients in one family (last curated november 2012)

•

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

•

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

•

en:age-related clinical course

•

en:adult onset (20 to 50 years)

•

en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

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

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en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205).

•

en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes

•

en:hip joint replacement often necessary

•

en:adult onset (25-45 years)

•

en:variable age of onset (first to third decades)

•

en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation

•

en:see also congenital stiff person syndrome (149400)

•

en:variable frequency (daily to monthly)

•

en:see also autosomal dominant form (160800), which is less common and less severe

•

en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada

•

en:onset in adolescence or young adulthood

•

en:no clinical description given for 1 reported patient (last curated december 2013)

•

en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene

•

en:many cases are asymptomatic

•

en:majority of patients are pyridoxine-responsive

•

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

•

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

•

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

•

en:affected, mild - 50-150 repeats

•

en:genetic heterogeneity (see, e.g., atfb1, 608583)

•

en:allelic to aicardi-goutieres syndrome (225750)

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en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)

•

en:associated specifically with the gba d409h mutation (606463.0006)

•

en:association of cardiac events with exercise

•

en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia

•

en:cardiomyopathy is not a feature

•

en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)

•

en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation

•

•

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

•

en:mean age at onset 35 years (range 20-60)

•

en:mild to severe forms of disease

•

en:minimum duplication includes bhlha9 (615416)

•

en:nonprogressive or slowly progressive

•

en:occurs during pregnancy, most often in the third trimester

•

en:presentation between 6-18 months

•

en:onset <30 months

•

en:onset birth to 6 months

•

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

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:onset usually within first weeks of life

•

en:prevalence of 1 in 150,000

•

en:intolerant of heat

•

en:lower limb weakness is presenting feature

•

en:allelic disorder to glut1 deficiency syndrome 1 (606777)

•

en:incidence 1 in 300,000 in japan

•

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

•

en:46,xy carriers are unaffected

•

en:acanthosis nigricans fades during adolescence and reappears in pregnancy

•

en:affected individuals remain ambulatory in old age

•

en:primary teeth affected greater than secondary teeth

•

en:allelic to sialuria, finnish type (604369)

•

en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)

•

en:contiguous gene duplication syndrome

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en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement

•

en:corrected by bone marrow transplantation

•

en:death in infancy due to hyperthermia or apnea

•

en:death usually in early childhood

•

en:early death in patients with cloverleaf skull

•

en:fatal in the neonatal period (in some patients)

•

en:female to male ratio, 1:1

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en:high prevalence among individuals of portuguese descent

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en:prevalence of 1 in 227 hopi indians

•

en:onset of proteinuria in the third to fourth decades

•

en:progressive disease with onset in infancy

•

en:possible favorable response to ketogenic diet

•

en:one patient was less severely affected

•

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

•

en:onset 70-90 years

•

en:onset in teens has been reported

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en:painful cramping following ischemic exercise test

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en:phenotypic variation (may affect language expression, reception, and/or articulation)

•

en:risk of thromboembolic stroke

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en:nonsyndromic

•

en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)

•

en:severe infantile cases usually die by 6 months

•

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

•

en:two families of french-canadian origin have been reported (last curated december 2012)

•

en:variable age at onset (range 8 to 60 years, mean 32)

•

en:subset of patients have french-canadian leigh syndrome (220111)

•

en:no skin abnormalities

•

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

•

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

•

en:contractures most severe by midadolescence

•

en:treatment with bh4 is effective

•

en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities

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en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal

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en:adult onset rarely reported

•

en:affected infants die in neonatal period

•

en:based on report of 2 turkish sisters (last curated july 2015)

•

en:bleeding is usually delayed-onset after challenge

•

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

•

en:de novo mutation in some cases

•

en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis

•

en:frequency of infections decreases after 3 years of age

•

en:highly variable dysmorphic features

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en:highly variable phenotype with regard to pigmentation

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en:increased bleeding after surgery

•

en:increased frequency in eastern pennsylvania amish

•

en:onset of symptoms in first or second decade of life

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:paternal age effect

•

en:patients do not have clinical hypothyroidism

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

•

en:rapid disease progression

•

en:severe phenotype

•

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

•

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

•

en:three patients have been reported (as of october 2009)

•

en:two subtypes, episodic (85% of patients) and chronic (15%)

•

en:variable penetrance of these features

•

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

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)

•

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

•

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

•

en:onset of disease within the first year of life

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

•

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

•

en:both homozygous and heterozygous edn3 mutations have been found

•

en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects

•

en:affected individuals are negative for dermatographism

•

en:age of onset 20-65 years

•

en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)

•

en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)

•

en:bleeding episodes occur early in life and may disappear with age

•

en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)

•

en:often lethal in infancy

•

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

•

en:genetic heterogeneity (see rmd, 606072)

•

en:global developmental delay

•

en:mean age at onset 15.2 years

•

en:most common form of childhood idiopathic epilepsy

•

en:most severe form of gaucher disease

•

en:normal sweat electrolytes

•

en:based on report of 1 family (last curated december 2012)

•

en:onset 1-12 years

•

en:considered to be a manifestation of the caudal regression syndrome

•

en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

•

en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism

•

en:prevalence in taiwan is 1 in 132,000

•

en:prevalence of 1 in 300,000 in quebec

•

en:prognosis good

•

en:rarely reported in infants

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)

•

en:telangiectasia become evident between the second and eighth year of life

•

en:overall course less severe compared to patients with cfh (134370) mutations

•

en:this patient died at age 2 years

•

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

•

en:two sibs have been reported (last curated november 2012)

•

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

•

en:type b characterized by dementia, motor disturbances, and facial dyskinesia

•

en:variable age at onset (childhood to age 50)

•

en:death in infancy (1 patient)

•

en:patients have normal pituitary function

•

en:two families have been reported (september 2010)

•

en:onset of seizures in first months of life

•

en:increased frequency in ashkenazi jewish population

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en:wide variability in severity of limb defects

•

en:death usually by age 10 years

•

en:few familial (parent offspring) cases reported

•

en:four unrelated patients have been reported (last curated october 2015)

•

en:hearing loss typically begins between 3 and 4 years of age

•

en:high intrafamilial and interfamilial variability

•

en:high prevalence among individuals of middle eastern or african descent

•

en:good response to levodopa treatment

•

en:later onset is associated with slower progression and lesser severity

•

en:majority of patients develop symptoms within the first few weeks of life

•

en:male predominance

•

en:mutation in npr2 results in gain-of-function

•

en:normal intelligence in majority

•

en:one family and 1 unrelated patient have been reported (last curated december 2015)

•

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

•

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

•

en:onset in neonatal period or infancy

•

en:short survival (less than 10 years after onset)

•

en:onset at age 36 years

•

en:onset at birth or early infancy

•

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

•

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

•

en:sex ratio - 2 females to 1 male

•

en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:some patients do not achieve independent ambulation

•

en:some patients may need surgery or renal transplant

•

en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes

•

en:male predominance of 3:1 to 5:1

•

en:survival to 20s-60s in iib

•

en:most patients become wheelchair-bound in later childhood

•

en:clinical onset within first 2 years of life

•

en:lethal in 40% of patients

•

en:left side involvement more frequent than right side involvement

•

en:high incidence among old order amish

•

en:hepatic failure develops in first months of life

•

en:hearing loss is pre- or perilingual in onset

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:does not lead to hepatic failure

•

en:death in fourth to fifth decade

•

en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800)

•

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

•

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

•

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

•

en:adult-onset (range early twenties to forties)

•

en:two patients required liver transplantation

•

en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500)

•

en:aura may occur

•

en:adult onset (45 to 76 years)

•

en:most common episodic ataxia syndrome

•

en:age at onset most often in childhood (first decade)

•

en:usually affects children

•

en:two unrelated consanguineous families have been reported (last curated january 2015)

•

en:symptomatic if > 200 repeats

•

en:some patients exhibit features of more than 1 type of cardiomyopathy

•

en:sleep terrors usually remit during adolescence

•

en:signs and symptoms depend on tumor location and activity

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:rapidly progressive to persistent vegetative state or death

•

en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd

•

en:onset ranges from 2 days to 7 months (most at 2-3 months)

•

en:onset of symptoms 2-4 weeks of age

•

en:onset in childhood (range infancy to 14 years)

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:may progress to other body regions after many years

•

en:four unrelated families have been reported (last curated august 2015)

•

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

•

en:may be due to imprinting defect

•

en:variable features present

•

en:death often occurs during metabolic/acidotic crisis

•

en:disorder becomes apparent around age 2 years when patients begin to walk

•

en:early death may occur from cardiogenic shock preceded by arrhythmia

•

en:allelic to deafness, autosomal recessive 12 (601386)

•

en:genetic heterogeneity (see bfic2, 605751)

•

en:highly variable severity and features

•

en:majority of cases have bilateral involvement

•

en:majority of patients from italy and southwestern united states

•

en:malnutrition can be severe, requiring total parenteral nutrition

•

en:group a patients die in the first years of life

•

en:onset of cardiomyopathy may occur several months after birth

•

en:one-third of cases are familial

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

en:onset - present at birth

•

en:onset between 8 and 30 years

•

en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age

•

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

•

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

•

en:onset of symptoms in childhood

•

en:precipitated by infection, fasting, or intercurrent illness

•

en:reported in individuals of sephardic jewish ancestry

•

en:spectrum of laterality defects

•

en:long headache duration (greater than 12 hours)

•

en:most patients die of renal failure in early adulthood

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:late-adult onset has been reported

•

en:dysmorphic features are variable

•

en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus

•

en:allelic to mucolipidosis ii (252500)

•

en:based on 2 unrelated chinese families (last curated july 2014).

•

en:death by age 15 months

•

en:described in individuals of jewish bukharian descent

•

en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)

•

en:episodes tend to decrease with age

•

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

•

en:estimated frequency 1.6 cases/10,000 live births

•

en:estimated population frequency of 1 in 13,000-20,000

•

en:gait abnormality

•

en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:increased frequency among individuals of east asian descent

•

en:two unrelated patients have been reported (last curated january 2015)

•

en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:most patients are female

•

en:a subset of patients have a 'visual variant'

•

en:waddling gait

•

en:variable clinical features

•

en:symptoms progress with worsening myopathy

•

en:slight increased risk for malignancy

•

en:see also gaucher disease type iii (231000), which is much less severe

•

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

•

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

•

en:onset of disease 3-30 years

•

en:onset in middle age (44 to 60 years)

•

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

•

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

•

en:neonatal onset

•

en:most patients become wheelchair-bound in the second or third decades

•

en:variable age at onset of symptoms, ranging from the second to seventh decades of life

•

en:mild symptoms may occur in teenage years

•

en:endocrine defects evolve over time

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

en:clinical presentation varies

•

en:based on 1 family (last curated september 2012)

•

en:death in childhood may occur due to end-stage renal disease

•

en:development of afebrile seizures later in childhood

•

en:diagnosed in second or third decade of life

•

en:death before age 3 years

•

en:episodes of fatigue or weakness (in some patients)

•

en:ketogenic diet may be effective

•

en:female carriers may be less severely affected

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:four patients have been reported (as of july 2011)

•

en:genetic heterogeneity (see cmt1b 118200)

•

en:feet are unaffected in some patients

•

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

•

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

•

en:onset in mid-forties

•

en:overlapping features of digeorge syndrome

•

en:patients are susceptible to sepsis and dehydration

•

en:two consanguineous lebanese families have been reported (last curated march 2015)

•

en:patients may present with autoimmune features or primary immunodeficiency

•

en:symptoms often decrease or remit with age

•

en:two families have been reported (as of curation date april 2014)

•

en:two unrelated consanguineous families have been reported (last curated june 2015)

•

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

•

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

•

en:an autosomal recessive form has been reported (269720)

•

en:incidence of 1 in 100 in some local nordic areas

•

en:high frequency in japan (2 in 20,000, 0.1%)

•

en:heterozygous carriers have decreased blood pressure compared to the general population

•

en:genetic heterogeneity (see 610168)

•

en:death at 20 to 40 years

•

en:clinical features other than liver findings may vary

•

en:associated with increasing age

•

en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)

•

en:allelic to pendred syndrome, deafness with goiter (274600)

•

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

•

en:adult-onset is referred to as small fiber neuropathy

•

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

•

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

•

en:variable abnormalities

•

en:upper limb involvement usually occurs later

•

en:adult onset (thirties to forties)

•

en:one family with 2 affected fetuses has been reported (as of august 2011)

•

en:allelic to senior-loken syndrome 4 (606996)

•

en:usually fatal within the first few weeks of life

•

en:two subtypes - seminoma and nonseminoma

•

en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

•

en:two siblings of consanguineous turkish parents have been reported

•

en:see also autosomal dominant lutheran-null phenotype (111150)

•

en:partially responsive to laser treatment

•

en:onset at birth or in first days or life

•

en:onset 13-15 years

•

en:only women have been reported

•

en:one patient has been described (last curated january 2016)

•

en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

•

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

•

en:one family reported (as of november 2011)

•

en:distinct disorder from parkinson disease (168600)

•

en:approximately 40% of cases are inherited or new germline mutations

•

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

•

en:autonomic symptoms occur with headaches

•

en:clinical severity varies

•

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

•

en:clinical variation

•

en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:high incidence in sweden and finland

•

en:late-onset, slowly progressing form of retinitis pigmentosa

•

en:not responsive to biotin treatment

•

en:no phenotypic manifestations

•

en:most patients lose ambulation 2 years after onset

•

en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life

•

en:movements worsened by anxiety

•

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

•

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

•

en:one report of a large italian family from sardinia (last curated december 2015)

•

en:onset in adolescence or adulthood has been reported

•

en:unusual skill with jigsaw puzzle

•

en:see also autosomal recessive form (612304)

•

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

•

en:patients with t2 deficiency and urinary abnormalities may be asymptomatic

•

en:prenatal history of maternal diabetes in 35% of cases

•

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

•

en:prevalent among patients of asian descent, particularly japanese

•

en:see also french-canadian type of leigh syndrome (220111)

•

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

•

en:mean age at onset 28 years

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:average age at onset 19 years (range 5 to 38)

•

en:may have less severe phenotype than rsts patients with crebbp mutations

•

en:broad range in severity of presentation in sibships

•

en:citation:bib:pt:reference lab test:nar

•

en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:additional developmental abnormalities may be seen in some patients

•

en:allelic to autosomal recessive pxe (264800)

•

en:all patients have duplication of at least the crebbp gene (600140)

•

en:based on description of 1 family (last curated april 2006)

•

en:based on four patients in a four generation family

•

en:connatal form (type ii), most severe with death in first decade

•

en:male patients have more severe disease than female patients

•

en:death occurs 10 to 20 years after onset

•

en:early death due to infection

•

en:estimated incidence of 1 in 17,000

•

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

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

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

•

en:hypogonadism reported in a large swedish kindred

•

en:joint laxity decreases with age

•

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

•

en:onset in childhood or young adulthood

•

en:variable age at onset (range 14 to 50 years)

•

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

•

en:onset of lesions may occur in early childhood or as late as the seventh decade

•

en:onset usually in first to third decade of life

•

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

•

en:prevalence of 1 in 240 zuni indians

•

en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation

•

en:skeletal and endocrine features have not been fully characterized in all of the patients reported

•

en:skin lesions on back, face, nape of neck, and waist tend to be mild

•

en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease

•

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

•

en:susceptibility to infections starts in the first week of life

•

en:ultrasound detection in second trimester of pregnancy

•

en:urine turns dark on standing and alkalinization

•

en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci

•

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

•

en:variable progression rate

•

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

•

en:worldwide frequency of 1 in 2,000,000

•

en:onset in late childhood (after age 10 years)

•

en:there are several subtypes

•

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

•

en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)

•

en:46,xx carriers are unaffected

•

en:nonprogressive

•

en:age of onset 17 to 68 years (mean 39)

•

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

•

en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)

•

en:bleeding after trauma or surgery

•

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

•

en:autosomal dominant with complete penetrance

•

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

•

en:most common form of congenital methemoglobinemia

•

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

•

en:length of attack, 3 to 7 days

•

en:loss of ambulation within 10 years of onset

•

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

•

en:meiotic origin >95% maternal, mostly meiosis i

•

en:most patients are asymptomatic

•

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

•

en:worldwide prevalence of 1/100,000

•

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

•

en:waddling gate

•

en:visual acuity varies from 20/20 to no light perception

•

en:variable severity between patients and between eyes (in some patients)

•

en:visceral manifestations are less apparent

•

en:variant at may present with dystonia only

•

en:variable severity of brain malformations

•

en:variable severity, even within families

•

en:xy karyotype

•

en:variable response to vitamin b12 therapy

•

en:worsening of symptoms during sleep

•

en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide

•

en:miscellaneous

•

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

•

en:health insurance plan benefits comment:finding:point in time:^patient:narrative

•

en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:(2) intermittent

•

en:1 patient reported (last curated may 2012)

•

en:21% of hereditary wilms tumor are bilateral

•

en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma

•

en:75% of affected individuals are female

•

en:variable involvement of hematologic parameters

•

en:variable phenotype within and between oi5 families

•

en:two forms: iia (severe) and iib (mild)

•

en:variable frequency (weekly to yearly)

•

en:two unrelated families have been reported (last curated april 2015)

•

en:symptoms precipitated by sudden movements

•

en:temperature instability

•

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

•

en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy

•

en:treatment with tnf inhibitors may be beneficial

•

en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection

•

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

•

en:two families reported (last curated february 2013)

•

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

•

en:two loci described - eec1 (129900) and eec3 (604292)

•

en:two unrelated families have been reported (as of october 2010)

•

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

•

en:variable age at onset of neuropathy (range first to sixth decade)

•

en:two unrelated families of european descent have been reported (last curated may 2015)

•

en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)

•

en:two unrelated patients have been reported (as of january 2012)

•

en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported

•

en:type iia tends to have more severe phenotype with earlier onset

•

en:usually asymptomatic

•

en:usually favorable response to treatment

•

en:usually presents in third to fourth decade (but onset can range from childhood to elderly)

•

en:usual age of onset in the 20s and 30s

•

en:variable age at onset

•

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

•

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

•

en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms

•

en:autosomal dominant inheritance has been reported

•

en:adams-stokes syndrome

•

en:clinical features present only if mutation inherited on paternal allele

•

en:based on report of 1 consanguineous pakistani family (last curated may 2015)

•

en:based on report of 1 large 6-generation family (last curated july 2015)

•

en:based on report of 2 sibs in 2008

•

en:body habitus becomes apparent in childhood

•

en:breech position

•

en:cardiac arrest and sudden death may occur, even in early childhood

•

en:carrier females may show mild mental retardation or learning disabilities

•

en:carrier frequency in finland 1/40

•

en:cerebellar ataxia shows onset in young adulthood

•

en:characteristic facial features become more apparent with age

•

en:clinical features may vary

•

en:compound heterozygosity common

•

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

•

en:considered to be a variant of gaucher disease type iii (231000)

•

en:continuing ovulation and implantation after initiation of another pregnancy

•

en:death about 20 years after symptom onset

•

en:death between 2 years of age and young adulthood

•

en:death due to respiratory failure or infection

•

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

•

en:death in first weeks of life

•

en:death in infancy

•

en:death in neonatal period

•

en:death may occur in infancy

•

en:death may occur in the first decade

•

en:difficulty walking

•

en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)

•

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

•

en:adult-onset in third to fourth decade

•

en:all cases from a remote village, sabinas, in northern mexico

•

en:adult onset (before 50 years)

•

en:adult onset (range 45 to 70 years)

•

en:affected individuals are highly prone to burn-related injuries

•

en:affects 1 to 3% of the population

•

en:allelic disorders with clinical overlap include dss and cmt1b (118200)

•

en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300)

•

en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)

•

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

•

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

•

en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)

•

en:allelic to myosin storage myopathy (608358)

•

en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)

•

en:all patients have severe hearing loss 10 to 15 years after onset

•

en:based on 1 reported family with oca6

•

en:antibodies can develop after pregnancy or transfusion

•

en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1)

•

en:asymptomatic if papillary zone is spared

•

en:attacks typically last for minutes

•

en:symptoms induced by strenuous exercise

•

en:autosomal recessive cytochrome b-positive cgd, type ii (233710)

•

en:autosomal recessive disorder tends to be more severe

•

en:autosomal recessive inheritance has been described in 2 families

•

en:autosomal recessive inheritance has been suggested

•

en:a second family had mild intellectual disability

•

en:a severe infantile variant has been rarely reported

•

en:basal cell neoplasms develop after second decade

•

en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes

•

en:some individuals may be clinically asymptomatic

•

en:symptomatic female carriers have been described in 1 japanese family

•

en:onset usually in childhood (1 to 9 years of age)

•

en:onset of hyperuricemia or gout in young adulthood

•

en:onset of kyphosis in childhood

•

en:onset of macrocephaly in the first year of life

•

en:onset of muscle weakness around age 5 years

•

en:onset of other symptoms in adolescence or early adulthood

•

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

•

en:onset of seizures in first 6 months of life

•

en:onset of skin lesions at birth

•

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

•

en:onset of symptoms often associated with nonspecific febrile illness

•

en:onset ranges from early childhood to adulthood (usually before age 15)

•

en:onset usually in first or second decade (mean 10 years)

•

en:onset of hearing loss in first decade of life

•

en:onset usually in infancy or early childhood

•

en:onset usually in second decade

•

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

•

en:onset within first 2 years of life

•

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

•

en:pain tends to occur later in the day

•

en:part of 'dent disease complex'

•

en:pathogenic alleles have 19 to 33 repeats

•

en:patients from 4 unrelated families have been reported (as of october 2011)

•

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

•

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

•

en:patients present with groin pain

•

en:onset of hearing loss ranges from childhood to young adulthood

•

en:onset of hand involvement at 14 to 60 years

•

en:patients with homozygous mutations have a more severe disorder

•

en:onset birth to early infancy

•

en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)

•

en:only 13% develop hypertension at 18 years of age or less

•

en:onset 10-20 years of age

•

en:onset after age 20 years

•

en:onset at birth or in first months of life

•

en:onset at early age, associated with sudden death in childhood

•

en:onset before 50 years of age

•

en:onset between 10 and 20 years of age

•

en:onset between 18 and 65 years

•

en:onset between 3 and 8 months of age

•

en:onset between 5 to 28 years of age

•

en:onset between age 4 to 7 months

•

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

•

en:onset of dysmorphic features and developmental delay in infancy

•

en:onset in early infancy (2 to 3 months of age)

•

en:onset in infancy or childhood

•

en:onset in late childhood/adolescence (approximately 15 years)

•

en:onset in second decade or as young adult

•

en:onset in teens to 20's

•

en:onset in the 3rd decade of life or later

•

en:onset in third decade

•

en:onset in utero or in infancy

•

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

•

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

•

en:onset may be prelingual or in childhood

•

en:onset mid to late adulthood

•

en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment

•

en:patients younger than 30 years complain only that they cannot run fast

•

en:survival 30 to 40 years after onset

•

en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa

•

en:seizure onset at a mean of 14 months (range 6 to 36 months)

•

en:seventy percent of cases have associated anomalies

•

en:severe infantile form presents before 6 months

•

en:skin abnormalities can be present at birth or appear later in infancy or childhood

•

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

•

en:small placenta

•

en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

•

en:some features not found in all patients

•

en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications

•

en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents

•

en:some patients acquire late ambulation

•

en:some patients do not have dysmorphic features

•

en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age

•

en:seizures may remit with age (in some patients)

•

en:some patients have a crouzon-like appearance

•

en:some patients have no neurologic abnormalities

•

en:some patients have only plantar surface involvement

•

en:some patients may become bedridden 10 to 20 years after onset

•

en:some patients may have isolated myokymia

•

en:some patients may live to adulthood

•

en:some patients may not have recurrent infections

•

en:some patients may present with adult-onset small fiber neuropathy

•

en:some patients show onset in childhood

•

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

•

en:stillborn or death shortly after birth

•

en:sudden infant death may occur

•

en:seizures tend to remit later in childhood

•

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

•

en:penetrance is usually complete by age 65 years

•

en:responsive to thiazide diuretics

•

en:phenotypic overlap with cytochrome c oxidase deficiency (220110)

•

en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:possibly allelic to cohen syndrome (216550)

•

en:presenting symptoms in the upper body

•

en:presents at a later stage than sporadic wilms tumor

•

en:prevalence of 1 in 70,000

•

en:prevalence of in 1 in 8,000

•

en:ratio female to male, 19:10 in index family

•

en:recurrence of symptoms after cholecystectomy

•

en:recurrent bacterial infection

•

en:relatively mild phenotype

•

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

•

en:seizures easily controlled by medications

•

en:secondary features include arterial hypertension and renal involvement

•

en:see also adult-onset stiff person syndrome (184850)

•

en:see also an adult-onset form (213600)

•

en:see also autosomal recessive robinow syndrome (268310)

•

en:see also chromosome 2q32-q33 deletion syndrome (612313)

•

en:see also cmtx1 (302800) and cmtx2 (302801)

•

en:see also ecyt2 (263400) and ecyt3 (609820)

•

en:see also familial developmental dysphasia (600117)

•

en:see also junctional eb with pyloric atresia (226730)

•

en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features

•

en:see also perinatal lethal variant (608013), which is more severe

•

en:seizures are usually intractable

•

en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)

•

en:genetic heterogeneity (see 161800)

•

en:dyskinesia may be precipitated by alcohol, stress, or fatigue

•

en:see also severe, early-onset form (300717)

•

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

•

en:renal dysfunction normalizes in the first year of life

•

en:repeat is unstable if > 52 repeats

•

en:reported in 2 sibs (february 1991)

•

en:risk of death due to cardiac dysfunction

•

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

•

en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene

•

en:see also autosomal dominant giant axonal neuropathy (610100)

•

en:see also autosomal recessive form (255700), which is more common and more severe

•

en:see also more severe phenotype peeling skin syndrome (270300)

•

en:see also peeling skin syndrome, acral type (609796)

•

en:segmental distribution often affecting 1 limb

•

en:rare spontaneous improvement occurs (8%)

•

en:seizures may be triggered by infection

•

en:six patients have been reported (5/18/2011)

•

en:six patients have been reported (as of october 2011)

•

en:skewed x-inactivation in carriers

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

en:slow, progressive growth, then stable

•

en:slow progression

•

en:somatic mosaicism has been observed in some patients

•

en:some affected individuals have normal subsequent development

•

en:some patients are asymptomatic and detected only by newborn screening

•

en:some patients have a secreted but biologically inactive mutant leptin

•

en:some patients may become wheelchair-bound

•

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

•

en:progressive disease is seen in some patients

•

en:some patients report cyclical changes in severity of symptoms

•

en:phenotypic heterogeneity

•

en:onset usually before age 40 years (range 15 to 55)

•

en:onset usually in childhood (range 6 months to 16 years)

•

en:onset usually in first or second decades

•

en:onset usually in second or third decades

•

en:onset usually in third decade of life

•

en:overlapping clinical spectrum and allelic to masa syndrome (303350)

•

en:overlapping features with barber-say syndrome (209885)

•

en:partial factor viii deficiency in heterozygous carriers

•

en:pathogenic cag repeat length is 51 to 78 triplets

•

en:patients remain ambulatory

•

en:patient b had a more severe phenotype

•

en:pavm more frequent in hht1 than hht2

•

en:phenotypic overlap with parkinson disease

•

en:prevalent in sweden

•

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

•

en:phenotypic similarities to leigh syndrome (256000)

•

en:polyhydramnios

•

en:poor response to acetylcholinesterase inhibitors or cholinergic agents

•

en:poor response to l-dopa

•

en:prelingual onset in males

•

en:premature death may occur

•

en:presence of additional features is variable

•

en:prevalence in caucasians is 1 in 1,000,000

•

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

•

en:prevalent in ashkenazi jews

•

en:prevalent in newfoundland

•

en:some patients may have normal psychomotor development

•

en:some patients show improvement during summer or with fever

•

en:onset of seizures between 2 and 5 years

•

en:variable age at onset (birth to adolescence)

•

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

•

en:two unrelated families have been reported to have hpca mutations

•

en:two unrelated girls reported (last curated october 2013)

•

en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)

•

en:two unrelated patients have been reported (last curated october 2012)

•

en:type 3 - brandywine isolate opalescent dentin (125500)

•

en:type ii is progressive and leads to shortened lifespan

•

en:typically sporadic occurrence

•

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

•

en:variable age at onset, infancy to adulthood

•

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:variable age at onset (range adolescence to late adulthood)

•

en:two unrelated consanguineous families have been reported (last curated march 2015)

•

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

•

en:variable age of onset (childhood to adulthood)

•

en:variable disease severity

•

en:variable manifestation of features

•

en:variable phenotypic expression

•

en:variable severity, correlates with age at onset

•

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

•

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

•

en:variable survival (some neonatal lethality)

•

en:walking delay

•

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

•

en:young-adult onset (18-30 years) of sensory ataxia

•

en:two unrelated families have been reported (last curated december 2015)

•

en:two unrelated chinese families have been reported (last curated november 2013)

•

en:some response to l-dopa therapy

•

en:symptoms remain focal

•

en:spontaneous resolution of seizures by 12 months of age

•

en:sporadic occurrence

•

en:stillborn or infantile death usual in prenatal form

•

en:subset of patients have leigh syndrome (256000)

•

en:subtype of migraine with aura

•

en:sudden cardiac death frequent in affected families

•

en:sudden infantile death may occur

•

en:symptoms ameliorate with age

•

en:symptoms develop immediately after birth

•

en:symptoms may be aggravated by acute illness

•

en:symptoms may decrease after age 30 years

•

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

•

en:symptoms show insidious onset in the late first through third decades

•

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

•

en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)

•

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

•

en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)

•

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

•

en:treatment with vitamin d and phosphate is effective

•

en:tremor is aggravated by emotional stress

•

en:tumors may show spontaneous regression

•

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

•

en:two main presentations

•

en:two of 3 patients became wheelchair-bound

•

en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)

•

en:two sibs have been reported (last curated june 2015)

•

en:onset of symptoms in second to third decades of life

•

en:onset of parkinsonism in first decade

•

en:dysmorphic facial features are subtle

•

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

•

en:highly variable severity

•

en:high frequency in the french-canadian population

•

en:histologic features overlap with henoch-schonlein purpura (hspn)

•

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)

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:incidence 8/1,000 newborns

•

en:incidence of 1 in 250,000 births

•

en:incidence of mh in anesthetized children is 1 in 15,000

•

en:increased frequency in the faroe islands (carrier 1 in 25)

•

en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama

•

en:increased prevalence in the french-canadian population

•

en:increased risk of post-splenectomy thrombotic complications (in some patients)

•

en:hearing loss is variable

•

en:infantile form accounts for 90% of cases

•

en:initial development may appear normal

•

en:interfamilial and intrafamilial variability in severity of symptoms

•

en:isolated cases

•

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

•

en:later onset has been reported

•

en:late infantile onset 6-24 months

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:liver enzymes decrease with age

•

en:long duration

•

en:loss of independent walking by teenage years (in some)

•

en:majority are sporadic cases, affected sibs have been described

•

en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol

•

en:hearing loss and ocular findings are variable

•

en:majority of cases from middle eastern countries

•

en:fractures and dental caries and premature secondary tooth loss occur in adulthood

•

en:earlier onset is associated with more aggressive disease course

•

en:early death due to sepsis

•

en:endocrine abnormalities confined to kidney

•

en:estimated frequence 1/3000 to 1/5000

•

en:evidence of systemic iron overload seen in 1 family

•

en:excessive postsurgical blood loss

•

en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype

•

en:favorable response to treatment with minocycline or azithromycin

•

en:female carriers are unaffected or show neuropsychiatric features

•

en:female carriers experience significant clinical manifestations

•

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

•

en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada

•

en:gender-specific phenotype (homozygous men are fertile)

•

en:hearing loss affects all frequencies

•

en:genetic anticipation

•

en:genetic anticipation has been observed

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)

•

en:genetic heterogeneity (see 191100)

•

en:genetic heterogeneity (see 214300)

•

en:genetic heterogeneity (see 605407)

•

en:genetic heterogeneity (see 607634)

•

en:genetic heterogeneity (see feb1 121210)

•

en:genetic heterogeneity (see rmd1, 600332)

•

en:gonadal mosaicism reported

•

en:hand involvement improves with age

•

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

•

en:majority of wws patients die within the first year of life

•

en:onset of palmoplantar hyperkeratosis 7-8 years of age

•

en:onset in feet and legs (peroneal distribution)

•

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

•

en:one third of patients represent new mutations

•

en:onset 6 to 18 months

•

en:onset 8-20 years

•

en:onset at 4 to 9 weeks of age

•

en:onset at 5-24 months

•

en:onset between 1-3 years

•

en:onset in 1st to 3rd decade of life

•

en:onset in childhood (3 to 10 years)

•

en:onset in childhood (later than in antenatal bartter syndrome 241200)

•

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

•

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

•

en:onset in fifth or sixth decade

•

en:one patient with normal cognition has been reported

•

en:onset in first decade (range 1 to 7 years)

•

en:onset in mid-adulthood

•

en:onset in second decade

•

en:onset in third or fourth decades

•

en:onset in utero or early infancy

•

en:onset may occur in adulthood

•

en:onset of disease in late childhood

•

en:onset of gait abnormalities at 8 to 40 years

•

en:onset of gaze palsy at birth

•

en:onset of motor disturbances in childhood

•

en:onset of muscle weakness in early childhood, usually before age 10 years

•

en:onset of optic atrophy in infancy or early childhood

•

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

•

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

•

en:males are more commonly affected than females

•

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

•

en:males more frequently have severe lesions

•

en:marked phenotypic variability

•

en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)

•

en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders

•

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

•

en:more common in females (male:female ratio 4:1)

•

en:most cases result from de novo mutations

•

en:most common inherited ataxia

•

en:most individuals are asymptomatic

•

en:mulibrey is an acronym (muscle, liver, brain, and eyes)

•

en:mutation in rp9 gene in family (607331.0001) likely not pathogenic

•

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

•

en:nonprogressive or very slowly progressive

•

en:occurs at age 20-50 years

•

en:occurs more frequently in females

•

en:often fatal due in infancy due to intractable diarrhea

•

en:often unilateral involvement

•

en:one chinese family with a confirmed mutation has been reported (last curated august 2015)

•

en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)

•

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

•

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

•

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

•

en:one large 3-generation irish family has been reported (last curated october 2014)

•

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

•

en:one patient died at 17 months of age

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945963 • caches: c1=8 c2=1003 c3=1

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