Diko : en:child often can sit unsupported but never ambulates

en:child often can sit unsupported but never ambulates

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1854654

Associations d'idées

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1000

en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74)

•

en:1 patient reported (last curated may 2012)

•

en:13% of cases secondary to familial translocation (often maternally derived)

•

en:14% of patients survive with polyhydramnios

•

en:40% patients have associated abnormalities

•

en:a subset of patients are responsive to vitamin b12 therapy

•

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

•

en:a subset of patients improve with thiamine

•

en:abnormal morphogenesis of first and second branchial arches

•

en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis

•

en:about 10% of patients have a severe early onset in the first months of life

•

en:about 20% of female mutation carriers may show mild muscle weakness

•

en:about 50% of patients have intellectual disability and/or hydrocephalus

•

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

•

en:about half of individuals are asymptomatic and identified by newborn screening programs

•

en:absence seizures show onset between 3.5 and 4 years

•

en:absence seizures usually remit by puberty

•

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

•

en:accounts for 5-15% of childhood epilepsies

•

en:acetazolamide is often effective

•

en:acetazolamide may benefit attacks of vertigo

•

en:acute neurologic deterioration after viral illness has been reported

•

en:adult form is asymptomatic

•

en:adult onset (mean 60 years)

•

en:adult onset (mid-forties)

•

en:adult onset (range 15 to 53 years)

•

en:adult onset (thirties to forties)

•

en:adult onset - 100-1,000 repeats

•

en:adult onset of neurologic symptoms (range 30 to 46 years)

•

en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)

•

en:affected females have been reported

•

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

•

en:affected individuals have amnesia for events

•

en:affected males who survive are secondary to new mutations

•

en:affected patients have various combinations of the main clinical features

•

en:age at diagnosis of cataract may range up to 40 years

•

en:age at onset ranges from 50 to 70 years

•

en:age of onset - birth to 15 months

•

en:age of onset between 20 to 30 years

•

en:age of onset between 6 to 10 years of age

•

en:age of onset within the first years of life

•

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

•

en:age:time:pt:^patient:qn:calculated

•

en:age:time:pt:^patient:qn:estimated

•

en:alcohol may alleviate symptoms

•

en:all cases are de novo

•

en:all reported mutations have occurred de novo

•

en:allelic disorder is long qt syndrome-3 (lqt3, 603830)

•

en:allelic disorder to autosomal dominant form (129490)

•

en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)

•

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

•

en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)

•

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

•

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

•

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

•

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

•

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

•

en:allelic disorder to parkinson disease-1 (park1, 168601)

•

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

•

en:allelic disorder to schindler disease (609241)

•

en:allelic disorder to spastic paraplegia-3 (spg3, 182600)

•

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

•

en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)

•

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 to acrokeratosis verruciformis (101900)

•

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

•

en:allelic to aicardi-goutieres syndrome (225750)

•

en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset

•

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

•

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

•

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

•

en:allelic to hand osteoarthritis (607850)

•

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

•

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

•

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

•

en:allelic to noonan syndrome (163950)

•

en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)

•

en:allelic to pseudoachondroplasia (177170)

•

en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)

•

en:alopecia usually occurs around puberty

•

en:anemia is not responsive to pyridoxine supplementation

•

en:anemia may show onset in infancy

•

en:approximately 25% have a severe course and die of respiratory failure

•

en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity

•

en:arthralgia

•

en:assisted ambulation or wheelchair-dependent

•

en:associated with deletion at chromosome 2q37

•

en:asymptomatic if papillary zone is spared

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:atypical hemolytic-uremic syndrome shows onset in first 12 months

•

en:autosomal dominant with complete penetrance

•

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

•

en:autosomal recessive form (277720) has also been described

•

en:autosomal recessive inheritance has been described in 2 families

•

en:autosomal recessive inheritance in one family (see 603342.0010)

•

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

•

en:average age at onset 38 years

•

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

•

en:basal cell neoplasms develop after second decade

•

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

•

en:based on 1 reported family with oca6

•

en:based on 1 reported patient (last curated november 2013)

•

en:based on 2 patients with p4hb mutations (last curated april 2015)

•

en:based on detailed clinical description of 1 family

•

en:based on one patient (last curated february 2015)

•

en:based on one report of 3 consanguineous pakistani families (last curated august 2015)

•

en:based on report of 2 consanguineous arab families (last curated november 2014)

•

en:based on report of 2 probands (last curated october 2014)

•

en:based on report of 3 patients from 2 families (last curated march 2016)

•

en:begins in feet and legs (peroneal distribution)

•

en:birth date:time stamp -- date and time:point in time:^patient:quantitative

•

en:birth rate of 7.6 per 1,000,000

•

en:bleeding after trauma or surgery

•

en:blistering may worsen during the summer

•

en:both autosomal dominant and autosomal recessive inheritance have been reported

•

en:both homozygous and heterozygous mutations in lrsam1 have been reported

•

en:brain anomalies variable

•

en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients

•

en:c10orf2 mutations account for approximately 35% of all peo cases

•

en:can be effectively treated with n-carbamylglutamate

•

en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3

•

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

•

en:cardiac manifestations are often fatal

•

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

•

en:carrier females may have mild features

•

en:carrier females may present with postpartum hyperammonemia

•

en:carrier males are fertile

•

en:cheerful disposition

•

en:childhood onset (average 4 to 6 years)

•

en:chronic disease

•

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

•

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

•

en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance

•

en:clinically mimics congenital torch infections (see 251290)

•

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

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en:colorectal cancer develops by fourth decade in untreated patients

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

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en:complicated and pure forms

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en:conduction defect is progressive

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en:congenital disorders

•

en:congenital onset

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en:congenital reduction in visual acuity is nonprogressive

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

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en:corneal steepening is proportional to the degree of axial foreshortening

•

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

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en:death due to rapidly progressive pulmonary fibrosis in infancy

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en:death from pneumonia

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en:death from stroke if untreated

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

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en:death in fourth to fifth decade

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en:death in infancy (1 patient)

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en:death in infancy secondary to respiratory insufficiency/pneumonia

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en:death in utero or early infancy

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en:death in utero or in the perinatal period

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en:death may occur in childhood due to respiratory failure

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en:death occurs in second or third decade

•

en:death often by age 2 years

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en:death often in early infancy

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en:death often secondary to pneumonia or congestive heart failure

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en:death secondary to respiratory infection or failure

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en:death secondary to respiratory insufficiency

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en:death usually occurs before 5th decade

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en:death usually occurs by age 2 years

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en:death usually occurs in childhood

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en:death usually within first weeks of life

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en:deposits may recur in graft after corneal transplantation

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en:described in 6 japanese families

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en:described in families from galicia, spain

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en:described in one 5-generation pakistani family (last curated april 2013)

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en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)

•

en:diarrhea persists even with vigorous nursing

•

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

•

en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)

•

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

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en:disease is nonprogressive in most patients

•

en:distinct disorder from reduced zinc in breast milk (608118)

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en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures

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en:dyskinesia may occur in homozygotes (1 reported case)

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en:dysmorphic features were only reported in 1 patient

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en:earliest symptom onset in sixth decade of life

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en:early death in early adulthood often associated with diverticulitis and intestinal perforation

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en:early death often due to respiratory complications

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en:early lethality in most cases

•

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

•

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

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en:end-stage renal failure may occur

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en:environmental triggers - cold and wet exposure

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en:epilepsy with grand mal seizures on awakening (egma, 607628)

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en:episodes brought on by fasting or infection

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en:episodes not triggered by alcohol, caffeine, or stress

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en:episodes tend to decrease with age

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en:episodes typically last 2 to 5 minutes and occur daily or several times per month

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

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

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en:exacerbations during infection

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

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en:extreme variability in severity of features

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en:eye involvement begins at birth, neurologic involvement begins later

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en:fatal without bone marrow transplantation

•

en:favorable response of seizures to a ketogenic diet

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en:favorable response to flunarizine

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en:favorable response to lenalidomide treatment

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en:favorable response to treatment with cholinesterase inhibitors or amifampridine

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en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)

•

en:features usually appear during adulthood

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en:febrile seizures show onset between 6 months and 3 years

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en:female carriers experience significant clinical manifestations

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en:female carriers may be affected

•

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

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en:females are more often affected

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en:females more severely affected than males

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en:first described in acadian population of louisiana

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en:foot dragging may appear in childhood

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en:founder effect in irish traveler population

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

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en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)

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en:four families have been reported (last curated june 2011)

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en:four individual patients and 1 saudi family have been reported (as of february 2012)

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

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

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

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en:four sibs from the old order mennonite community has been reported (last curated december 2015)

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en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)

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

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

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en:gastrointestinal anomalies are not always present

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en:generalized dystonia in some cases

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en:generally benign disorder

•

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

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en:genetic heterogeneity (see 214300)

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en:genetic heterogeneity (see 601680)

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en:genetic heterogeneity (see 605407)

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en:genetic heterogeneity (see bafme2, 607876)

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en:genetic heterogeneity (see cmt1b 118200)

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en:genetic heterogeneity (see cmt2a 118210)

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en:genetic heterogeneity (see cmt4a 214400)

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en:genetic heterogeneity (see cnc2, 605244)

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

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en:genetic heterogeneity (see hcfp1, 601471)

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en:genetic heterogeneity (see hhf1 256450)

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en:genetic heterogeneity (see pfic1, 211600)

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

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

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

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en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)

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en:genetic heterogeneity, see cild1 (244400)

•

en:genetic heterogeneity, see mgr1 (157300)

•

en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)

•

en:glucocorticoid deficiency occurs in mid-childhood

•

en:gonadal and somatic mosaicism reported in parent

•

en:green color resolves if cholestasis is treated

•

en:growth retardation onset in utero

•

en:hair loss begins in first years of life

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en:hair tends to straighten by 2nd-3rd decade

•

en:hearing loss affects all frequencies

•

en:hearing loss and hoarseness occur later

•

en:hearing loss is congenital and nonprogressive

•

en:hearing loss ma be fluctuating or progressive

•

en:hemolysis may be exercise-induced

•

en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct

•

en:heterogeneous disorder

•

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

•

en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern

•

en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets

•

en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)

•

en:heterozygous carriers have an increased risk of metabolic dysfunction

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

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

•

en:high disease prevalence among french-canadians

•

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

•

en:high frequency in southern india (7% of all epilepsies)

•

en:high frequency of levodopa-induced dyskinesias

•

en:high incidence in sweden and finland

•

en:high intrafamilial and interfamilial variability

•

en:high risk of recurrence after surgery

•

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

•

en:highly variable dysmorphic features

•

en:highly variable phenotype and severity

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en:highly variable severity of muscle weakness

•

en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'

•

en:homozygotes have earlier onset and a more severe disorder

•

en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination

•

en:hyperkeratosis often present at birth but may appear later

•

en:hyperkeratosis triggered by chronic mechanical irritation

•

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

•

en:hyperthermia in early childhood

•

en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness

•

en:impaired healing

•

en:improvement of epimetaphyseal changes with age

•

en:in most cases capillary lesions are multifocal at birth and may increase in number with age

•

en:incidence 1 in 6,000 to 1 in 8,000 live births

•

en:incidence 1/1,200-1/15,000 live births

•

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

•

en:incidence of 1 in 1.5 million births

•

en:incidence of 1 in 250,000 births

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 480 among old order amish

•

en:incidence of 1 in 50,000 to 1 in 100,000

•

en:incidence of 1% in yarmouth county, nova scotia

•

en:incidence of mh in anesthetized adults is 1 in 50,000-100,000

•

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

•

en:incidence ranges from 1 in 8,500 to 1 in 12,000 births

•

en:incomplete penetrance (as low as 30% in some cases)

•

en:incomplete penetrance in some families

•

en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)

•

en:increased frequency in the dariusleut hutterites (canada)

•

en:increased recurrence risk with parental translocation

•

en:increased risk of bilateral breast cancer

•

en:increased risk of early death

•

en:increased risk of post-splenectomy thrombotic complications

•

en:increased susceptibility to malignant hyperthermia

•

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

•

en:individuals may accumulate more pigment in hair and eyes with age

•

en:individuals with the pcs trait are phenotypically normal

•

en:infant death may occur secondary to sepsis

•

en:infantile form usually leads to death by age 2 years

•

en:infantile onset

•

en:infants may have acute life-threatening crises

•

en:infertility

•

en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:intermittent exacerbations

•

en:internal organ rupture may occur

•

en:intolerant of heat

•

en:intracellular accumulation of material can occur in neuronal and nonneuronal cells

•

en:intracellular accumulation of material may not always be apparent

•

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

•

en:involuntary and nonvolitional phenomenon

•

en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300)

•

en:joint laxity decreases with age

•

en:juvenile form has onset between 4 and 19 years

•

en:juvenile rigid early-onset form more often paternally inherited

•

en:ketogenic diet may be effective

•

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

•

en:later onset (late childhood to young adult) has been reported

•

en:later onset has been reported (third or fourth decades)

•

en:later onset in adolescence has rarely been reported

•

en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)

•

en:later onset with a milder phenotype may also occur

•

en:left side involvement associated with serious cardiac defect

•

en:left sided involvement occurs more frequently

•

en:leg pain during childhood

•

en:leigh syndrome, x-linked

•

en:lesions provoked by friction, sun exposure, heat, and injury

•

en:lethal in first weeks of life

•

en:levodopa-induced dyskinesias

•

en:levodopa-responsive

•

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

•

en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype

•

en:live born infants die within few hours of birth

•

en:loss initially affects mid and high frequencies

•

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

•

en:majority cases are sporadic

•

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

•

en:majority of cases are secondary to de novo mutation

•

en:majority of cases in the afrikaner population of south africa

•

en:majority of patients die in neonatal period secondary to respiratory insufficiency

•

en:majority of patients from italy and southwestern united states

•

en:males are more severely affected than females

•

en:males are most severely affected, but females can also be affected

•

en:manifestations continue to appear until 5th decade

•

en:many cases are asymptomatic

•

en:many cases are sporadic, but somatic and germline mosaicism has been reported

•

en:many patients become wheelchair-bound later in life

•

en:many patients die by 1-3 years of age

•

en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

•

en:marked phenotypic variability, even within an individual

•

en:maternal imprinting

•

en:maternal oligohydramnios

•

en:may be benign condition

•

en:may be fatal in infancy

•

en:may be present in asymptomatic adults

•

en:may be progressive

•

en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome

•

en:may occur in adults (also in pregnancy)

•

en:may progress to other body regions after many years

•

en:may regress in adulthood

•

en:may respond to cholinesterase inhibitors

•

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

•

en:may result in early death from severe diarrhea

•

en:may result in sudden death

•

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

•

en:mean age at onset 16.5 years (range 9 to 35 years)

•

en:mean age at onset 23.9 years (range 10 to 55 years)

•

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

•

en:mean age at onset 30.7 years (range 6 to 60 years)

•

en:mean age at onset of migraines is 42 years

•

en:mean age at resolution of symptoms 10 years

•

en:mean age of diagnosis 40 years

•

en:mean age of diagnosis of uterine leiomyomas is 30 years

•

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

•

en:mean age of onset 30 years (range 25-42)

•

en:mean age of onset 30 years (range first to seventh decade)

•

en:mean age of onset 50 to 52 years

•

en:mean age of onset 50.2 years

•

en:median age at onset 23 years

•

en:median age of diagnosis is 28 years

•

en:median age of onset of pigmentation - 8 years (range 1-15 years)

•

en:median onset of neurologic symptoms is 13 years (range 5 to 28)

•

en:median onset of proteinuria is 18 years (range 10 to 21)

•

en:median survival is > 50 years

•

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

•

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

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:metabolic rate^resting:engrat:pt:^patient:qn

•

en:mild facial dysmorphism is associated with duplication of the flna gene

•

en:mild involvement of face and arms

•

en:miscellaneous ▷?

•

en:more common in ashkenazi jews

•

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

•

en:more common in men than women

•

en:more common in women (90%)

•

en:most case are sporadic

•

en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

•

en:most cases are responsive to steroids

•

en:most cases result from a de novo mutation

•

en:most cases result from de novo mutations

•

en:most cases sporadic

•

en:most common episodic ataxia syndrome

•

en:most common form of porphyria

•

en:most common terminal deletion syndrome

•

en:most have onset in first or second decade

•

en:most individuals are asymptomatic

•

en:most patients are from finland

•

en:most patients become wheelchair-bound in adolescence or as young adults

•

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

•

en:most patients die in the first months or years of life

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia

•

en:most patients have severe streptococcus pneumoniae infections

•

en:most severe form of gaucher disease

•

en:mousy odor

•

en:movements worsened by anxiety

•

en:multiple congenital anomalies

•

en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees

•

en:multiple prenatal fractures

•

en:multisystem decompensation in response to viral infection

•

en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)

•

en:mutation found in 1 puerto rican family (last curated august 2014)

•

en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy

•

en:mutations occur de novo

•

en:narcolepsy and deafness are the first symptoms

•

en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)

•

en:neonatal death

•

en:neonatal death secondary to pulmonary insufficiency

•

en:neurologic features are variable and not progressive

•

en:neurologic symptoms are not always present or may appear late

•

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

•

en:neuropathy becomes apparent in childhood

•

en:neuropsychiatric manifestations are variable

•

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

•

en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected

•

en:no chronic or permanent liver damage

•

en:no extraocular findings

•

en:no family history, de novo mutations

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:no peripheral signs of hypothyroidism

•

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

•

en:no situs inversus

•

en:non-progressive or very slowly progressive

•

en:non-tender

•

en:normal at birth

•

en:normal fertility

•

en:normal sclerae and teeth

•

en:not all patients have dysmorphic facial features

•

en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)

•

en:nphp shows autosomal recessive inheritance

•

en:number of episodes varies from 1 to many (up to 20)

•

en:occasional adult onset

•

en:occurs at age 20-50 years

•

en:occurs in 1 in 50,000 newborn males

•

en:occurs in 2-5 per 10,000 individuals

•

en:occurs in ~3% pregnancies in western populations

•

en:occurs most often among black africans

•

en:occurs on right side in 75% of cases

•

en:ocular abnormalities may be very mild

•

en:oculomotor apraxia is not always present

•

en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects

•

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

•

en:often diagnosed between ages 3-4 months

•

en:often fatal due in infancy due to intractable diarrhea

•

en:often presents with cranial or cervical involvement

•

en:often unilateral involvement

•

en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)

•

en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)

•

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

•

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

•

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

•

en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)

•

en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)

•

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

•

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

•

en:one consanguineous pakistani family reported (last curated august 2013)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one family of puerto rican descent has been reported (last curated january 2015)

•

en:one family reported (as of may 2012)

•

en:one family reported (last curated january 2014)

•

en:one family reported (last curated may 2013)

•

en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)

•

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

•

en:one family with 3 affected individuals has been reported (last curated february 2016)

•

en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001)

•

en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)

•

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

•

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

•

en:one large consanguineous arab muslim family has been reported (as of september 2011)

•

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

•

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

•

en:one lebanese family has been reported

•

en:one of the most common autoimmune diseases

•

en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)

•

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

•

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

•

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

•

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

•

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

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:one patient with a de novo mutation has been reported (last curated june 2015)

•

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

•

en:one patient with severe congenital onset has been reported

•

en:one report of brother and sister from nonconsanguineous parents

•

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

•

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

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

en:only 10% develop hypertension at 18 years of age or less

•

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

•

en:only 46,xy individuals are affected

•

en:only individuals homozygous for risk or non-risk alleles were studied

•

en:onset 1-70 years of age (95% by early 50's)

•

en:onset 2-4 years of age in iia

•

en:onset 30-40 years of age

•

en:onset 5 to 10 years of age

•

en:onset after age 40 years

•

en:onset around adolescence in males

•

en:onset at 4 to 7 years

•

en:onset before 10 years of age in all patients

•

en:onset before adolescence

•

en:onset between 1-3 years

•

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

•

en:onset between 13 to 37 years

•

en:onset between 15 and 27 years

•

en:onset between 2 and 4 years of age

•

en:onset between 2-5 years

•

en:onset between 3 and 11 years of age

•

en:onset between 34 and 51 years of age

•

en:onset between 8 and 30 years

•

en:onset between ages 1 to 3 years

•

en:onset between ages 12 and 20 years

•

en:onset between second to sixth decades of life

•

en:onset bimodal, ages 16-22 and ages 57-60

•

en:onset by 1 year of age

•

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

•

en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life

•

en:onset from first to third decades of life

•

en:onset in childhood (6-7 years)

•

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

•

en:onset in childhood or adolescence

•

en:onset in childhood or second decade

•

en:onset in childhood or young adulthood

•

en:onset in early adulthood (average 26 years)

•

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

•

en:onset in early infancy

•

en:onset in first 2 decades of life

•

en:onset in first 6 months of life

•

en:onset in first decade

•

en:onset in first decade (range 1 to 9 years)

•

en:onset in first months or years of life

•

en:onset in first weeks or months of life

•

en:onset in fourth and fifth decades

•

en:onset in fourth to fifth decade

•

en:onset in infancy (1-2 years)

•

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

•

en:onset in infancy or childhood

•

en:onset in infancy or early childhood

•

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

•

en:onset in infancy or first years of life

•

en:onset in infancy or late childhood

•

en:onset in late childhood or early teens

•

en:onset in late teens to early forties

•

en:onset in males in first to third decade

•

en:onset in mid-forties

•

en:onset in neonatal period or early infancy

•

en:onset in second decade

•

en:onset in second half of the first decade of life

•

en:onset in second or third decades

•

en:onset in second to fourth decade

•

en:onset in utero in severely affected patients

•

en:onset in utero or at birth

•

en:onset of abnormal eye movements in early childhood

•

en:onset of alopecia in infancy

•

en:onset of arthritis in early childhood

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement

•

en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood

•

en:onset of clinical features around puberty

•

en:onset of deafness and diabetes in adulthood

•

en:onset of deafness in early childhood

•

en:onset of disease after fourth decade of life

•

en:onset of fractures 4-18 months of life

•

en:onset of fractures in infancy to early childhood

•

en:onset of gaze palsy at birth

•

en:onset of hearing loss in first or second decade

•

en:onset of hearing loss prior to or during adolescence

•

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

•

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

•

en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade

•

en:onset of muscle weakness in late adulthood

•

en:onset of myoclonus later in childhood

•

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

•

en:onset of optic atrophy in first decade

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of other symptoms in adolescence or early adulthood

•

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

•

en:onset of seizures at 2-8 days of life

•

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

•

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

•

en:onset of skin manifestations from birth to puberty

•

en:onset of slowly progressive spastic paraplegia in first or second decade

•

en:onset of symptoms 2-12 months

•

en:onset of symptoms after age 5

•

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

•

en:onset of symptoms in fifth decade

•

en:onset of symptoms in first decade of life

•

en:onset of symptoms usually in adulthood

•

en:onset of tremor usually before onset of seizures

•

en:onset of vision loss in young adulthood (<20 years)

•

en:onset of visual loss in the first or second decades

•

en:onset often begins in childhood or adolescence

•

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

•

en:onset usually associated with febrile illness

•

en:onset usually at birth

•

en:onset usually between 30 and 50 years of age

•

en:onset usually in childhood (infancy to teens)

•

en:onset usually in first or second decades

•

en:onset usually in infancy

•

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

•

en:onset usually in second or third decades

•

en:onset usually in the first 4 years of life

•

en:onset usually in the neck

•

en:onset usually in young adulthood

•

en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder

•

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

•

en:painful cramping following ischemic exercise test

•

en:partial or absent response to steroid treatment

•

en:paternal age effect

•

en:pathogenic alleles contain 52 to 86 repeats

•

en:patient b had a more severe phenotype

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

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

•

en:patients achieve ambulation

•

en:patients exhibit no signs of ocular or cutaneous albinism

•

en:patients gradually develop tolerance to carbohydrates over time

•

en:patients have normal levels of vitamin a, beta-carotene, and zinc

•

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

•

en:patients may become wheelchair-bound

•

en:patients may or may not have dysmorphic features

•

en:patients may present with either renal or neurologic symptoms

•

en:patients often become wheelchair-bound

•

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

•

en:patients retain ambulation even after long disease course

•

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

•

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

•

en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days

•

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

•

en:peak age of onset in second decade (range childhood to 76 years)

•

en:penetrance 86% by 50 years of age

•

en:penetrance is usually complete by age 65 years

•

en:peo is not always present

•

en:persistence of febrile seizures beyond age 6 years

•

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

•

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

•

en:phenotypic overlap with frontotemporal dementia (600274)

•

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

•

en:phenotypic overlap with parkinson disease

•

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

•

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

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene

•

en:phenotypic variability, intrafamilial

•

en:pigmentary abnormalities apparent at birth or in infancy

•

en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap

•

en:possible autosomal dominant (165199) and autosomal recessive (258650) forms

•

en:precipitated by general anesthesia

•

en:predisposition to neoplasia

•

en:prelingual onset in males

•

en:premature aging syndrome

•

en:prenatal or perinatal death

•

en:present in infancy in all affected individuals

•

en:presentation between 6-18 months

•

en:presentation in first year of life

•

en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)

•

en:prevalence approximately 1 in 4,000 males

•

en:prevalence in finland is 1 in 25,000

•

en:prevalence in taiwan is 1 in 132,000

•

en:prevalence in the finnish population of 5.8 per million

•

en:prevalence of 0.6 to 10 per 100,000 individuals

•

en:prevalence of 1 in 150 to 1 in 1,000

•

en:prevalence of 1 in 40,000 to 1 in 80,000

•

en:prevalence of approximately 1 in 2000 individuals

•

en:prevalence of in 1 in 8,000

•

en:prevalence rates average 10-20% of the general population over age 60

•

en:prevalent among patients of asian descent, particularly japanese

•

en:prevalent in ashkenazi jews

•

en:progresses to involve upper limbs

•

en:progressive disease

•

en:progressive, with full manifestations at puberty

•

en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations

•

en:pulsatile headache lasts hours to days

•

en:quinidine therapy may be effective

•

en:radioresistant dna synthesis

•

en:range of onset 11 to 50 years

•

en:rapidly progressive

•

en:rapidly progressive deterioration (in some patients)

•

en:rare adult onset

•

en:rare autosomal dominant inheritance has been reported

•

en:rarely produces clinical jaundice

•

en:rash, edema, and arthralgia may occur during crisis

•

en:recurrent bacterial infections beginning in childhood

•

en:reduced fertility

•

en:reduced life expectancy

•

en:reduced penetrance (89%)

•

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

•

en:relatively slow progression

•

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

•

en:renal anomalies are not always present

•

en:reported in individuals of french canadian origin

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:responsive to high-dose biotin or biotin/thiamine treatment

•

en:responsive to treatment

•

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

•

en:retinal arteriolar tortuosity develops in adolescence and is progressive

•

en:right side affected greater than left side

•

en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis

•

en:risk of sudden death due to cardiac defects

•

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

•

en:see 177850 for description of heterozygous phenotype

•

en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)

•

en:see also pgl1 (168000)

•

en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype

•

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

•

en:seen more frequently in infants of diabetic mothers

•

en:seizure onset in first months or years of life

•

en:seizure severity and frequency tend to improve with age

•

en:seizures are sensitive to hyperventilation

•

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

•

en:seizures may be triggered by infection

•

en:seizures remit in early childhood

•

en:seizures tend to occur upon awakening

•

en:seizures usually occur in the first months of life

•

en:seizures, recurrent, refractory

•

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

•

en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 57: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:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:seven patients reported (as of march 2011)

•

en:severe clinical course

•

en:severe infantile cases usually die by 6 months

•

en:severe involvement of legs

•

en:severe phenotype

•

en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death

•

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

•

en:sex ratio - 2.3 males-to-1 female

•

en:shields classification -

•

en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay

•

en:sister of affected male siblings had mild learning disabilities and obesity

•

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

•

en:six patients from 1 saudi arabian family have been reported (last curated december 2011)

•

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

•

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

•

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

•

en:skeletal features are variably present

•

en:skin changes are progressive in childhood

•

en:skin manifestations may not be present

•

en:slight male predominance (3:2)

•

en:slow progression without marked disability

•

en:slowly progressive disease

•

en:somatic mutations occur in adrenal tumor tissue (601639.0001)

•

en:somatic or germline mosaicism may occur

•

en:some families have axonal cmt (cmt2m)

•

en:some features are variably expressed

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:some individuals may be clinically asymptomatic

•

en:some patients become wheelchair-bound

•

en:some patients can attend special school

•

en:some patients develop diabetes mellitus as adolescents

•

en:some patients have no or mild manifestations and normal development

•

en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients may develop interictal progressive ataxia

•

en:some patients may die from cardiomyopathy in the first or second decade of life

•

en:some patients may have isolated myokymia

•

en:some patients may have normal brain imaging

•

en:some patients may have normal development until onset of seizures in infancy

•

en:some patients may live to adulthood

•

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

•

en:some patients may show deterioration with infections

•

en:some patients may show normal early development before seizure onset

•

en:some patients never achieve walking or running

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:some patients show improvement in muscle power in the teenage years

•

en:some patients show infantile onset

•

en:some patients show normal development until onset of disorder

•

en:some patients show rapid disease progression

•

en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder

•

en:spasticity occurs before parkinsonism

•

en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14

•

en:spontaneous resorption (rare)

•

en:spontaneously resolves by 5 to 6 months of age

•

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

•

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

•

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

•

en:static or slowly progressive

•

en:static, nonprogressive disorder

•

en:stillbirth

•

en:stillborn or infantile death usual in prenatal form

•

en:striking intrafamilial variability

•

en:subset of patients have leigh syndrome (256000)

•

en:sudden death due to cardiomyopathy

•

en:survival to 10 years

•

en:surviving infants develop severe nonbullous ichthyosiform erythroderma

•

en:swelling starts to fade by age 30 years and gradually becomes unremarkable

•

en:symptoms ameliorate with age

•

en:symptoms are often responsive to alcohol

•

en:symptoms can be prevented by strict dietary restriction

•

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

•

en:symptoms improve during the summer

•

en:symptoms improve following sleep

•

en:symptoms may be exacerbated by pregnancy or trauma

•

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

•

en:symptoms may decrease after age 30 years

•

en:symptoms often decrease or remit with age

•

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

•

en:symptoms precipitated by exercise and excitement

•

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

•

en:symptoms present from infancy or early childhood

•

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

•

en:symptoms usually last 30-60 minutes

•

en:symptoms vary from asymptomatic patients to patients with metabolic acidosis

•

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

•

en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists

•

en:the lower the s-ado:saicar ratio, the more severe the phenotype

•

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

•

en:thin, fine hair described in few individuals

•

en:thoracic abnormalities tend to improve with age

•

en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features

•

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

•

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

•

en:three patients from 1 mexican family has been reported (last curated april 2013)

•

en:three patients have been reported

•

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

•

en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)

•

en:three sibs in one consanguineous iranian family have been described (last curated march 2015)

•

en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant

•

en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)

•

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

•

en:treatment with sulfonylurea can be effective

•

en:treatment with vitamin d and phosphate is effective

•

en:tremors develop after seizures

•

en:tumor suppressor genes

•

en:tumors may show spontaneous regression

•

en:twinning due to superfetation

•

en:two arab muslim families have been reported (last curated october 2012)

•

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

•

en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)

•

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

•

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

•

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

•

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

•

en:two families reported (last curated september 2012)

•

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

•

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

•

en:two main presentations

•

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

•

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

•

en:two patients without cardiomyopathy or cataracts have been reported

•

en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood

•

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

•

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

•

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

•

en:two sibs, a boy and a girl, have been reported (as of july 2009)

•

en:two types - lethal neonatal and less severe, late onset

•

en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)

•

en:type 2n is characterized by decreased binding affinity for factor viii

•

en:type 2n shows autosomal recessive inheritance

•

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

•

en:type a characterized by progressive myoclonic epilepsy

•

en:type i is infantile-onset, severe

•

en:type iiia has both liver and muscle involvement

•

en:typical onset in adulthood

•

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

•

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:unusual skill with jigsaw puzzle

•

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

•

en:usually clinically asymptomatic

•

en:usually fatal

•

en:usually follows a static course or is slowly progressive

•

en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)

•

en:usually symptomatic in adulthood with history of weakness since infancy or childhood

•

en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)

•

en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual

•

en:variable age at onset

•

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

•

en:variable age at onset (range 2 to 48 years)

•

en:variable age at onset (range 9 to 78 years)

•

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

•

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

•

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

•

en:variable age at onset (range prenatal to mid-adulthood)

•

en:variable age at onset (usually 20 to 30 years of age)

•

en:variable age at onset, infancy to adulthood

•

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

•

en:variable age of onset (childhood to adulthood)

•

en:variable age of onset (childhood to young adulthood)

•

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

•

en:variable age of onset (range 1-40 years)

•

en:variable age of onset of parkinsonism (first decade to adulthood)

•

en:variable cardiac defects

•

en:variable disease severity

•

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

•

en:variable expressivity

•

en:variable expressivity in families

•

en:variable expressivity within a family

•

en:variable expressivity, even within families

•

en:variable frequency and severity

•

en:variable locations

•

en:variable number of nails involved

•

en:variable pattern of body involvement although symptoms may predominate in upper or lower body

•

en:variable phenotype (myotonia may or may not be present)

•

en:variable presentation

•

en:variable presentation and manifestations

•

en:variable severity (mild symptoms to severe handicap)

•

en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation

•

en:variable severity of brain malformations

•

en:variable severity of phenotype and other features may be present

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

en:variable severity, correlates with age at onset

•

en:variable severity, even within families

•

en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities

•

en:very rare

•

en:visual impairment is present at birth and is progressive

•

en:waxing and waning cardiomyopathy (in some patients)

•

en:weakness during pregnancy in some affected females has been reported

•

en:wheelchair use by 10-30 years

•

en:wheelchair-bound average 12 years after onset

•

en:wide clinical variability

•

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

•

en:x-linked recessive cytochrome b-negative cgd

•

en:xy karyotype

•

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

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en:child ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945470 • caches: c1=76 c2=1374 c3=298

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