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

(id=9091742)

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C4228417

Associations d'idées

[F]

›

1000

en:u.s. frequency higher in blacks than whites

•

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

•

en:second most common form of usher syndrome type i

•

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

•

en:rarely produces clinical jaundice

•

en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns

•

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

•

en:onset of dysmorphic features and developmental delay in infancy

•

en:onset in first decade (birth to 6 years)

•

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

•

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

•

en:mutant alleles have 47 to 63 repeats

•

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

•

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

•

en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease

•

en:genetic heterogeneity (see 608638)

•

en:genetic heterogeneity (see 304800)

•

en:generally mild phenotype

•

en:few patients with mild to moderate mental retardation

•

en:environmental triggers - cold and wet exposure

•

en:dysmorphic facial features may not be present

•

en:disability by end of first decade

•

en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)

•

en:body habitus becomes apparent in childhood

•

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

•

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

•

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

•

en:acquired autoimmune disorder

•

en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia

•

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

•

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

•

en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable age at onset (range from early childhood to mid-adult)

•

en:variable abnormalities

•

en:some affected individuals have normal subsequent development

•

en:seventy percent of cases are stillborn

•

en:rare adult onset

•

en:precipitated by general anesthesia

•

en:oral contraceptives may also cause symptoms

•

en:onset of gaze palsy at birth

•

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

•

en:newborn period is critical for survival

•

en:may be due to imprinting defect

•

en:lymphedema occurs in childhood

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

en:high incidence in iraqis and sephardic jewish individuals

•

en:high frequency in hutterite population

•

en:hearing loss ma be fluctuating or progressive

•

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

•

en:diurnal fluctuation, more apparent in earlier years, later subsides

•

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

•

en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)

•

en:aggressive malignancies

•

en:affected males are infertile, whereas affected females have recurrent pregnancy loss

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:x-linked recessive cytochrome b-negative cgd

•

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

•

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

•

en:three patients from 1 french canadian family have been reported (last curated november 2014)

•

en:three males in 1 family have been reported (last curated august 2012)

•

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

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some features may be progressive

•

en:seizure onset in first months or years of life

•

en:see recessive form optb4 (611490)

•

en:prelingual onset

•

en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty

•

en:onset usually between 30 and 50 years of age

•

en:onset of symptoms often associated with nonspecific febrile illness

•

en:onset of sleepwalking between 4 and 8 years old

•

en:onset of essential tremor between 16 and 44 years

•

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

•

en:median age of diagnosis - 15 years

•

en:may be triggered by increased practice

•

en:marked clinical heterogeneity

•

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

•

en:incidence of 1/50,000 births

•

en:incidence in japan is 1 in 57,000

•

en:high frequency in finnish population

•

en:highly variable degree of bone fragility, even among patients carrying the same mutation

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:death usually within first weeks of life

•

en:death in teens secondary to cardiac failure

•

en:clubfoot is bilateral in most patients

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:autoimmune manifestations are present in some patients

•

en:associated with a balanced translocation t(12,22)(p11.2,q13.3)

•

en:allelic to waardenburg syndrome, type iia (193510)

•

en:allelic to several forms of autosomal recessive cmt (see 214400)

•

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

•

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

•

en:variable frequency and severity

•

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

•

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

•

en:treatment with riboflavin has been helpful in some patients

•

en:survival to 10 years

•

en:skin abnormalities tend to decrease with age

•

en:prevalence of 1 in 300,000 in quebec

•

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

•

en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described

•

en:onset of symptoms in adolescence or early adulthood

•

en:onset of sensory neuropathy in later adulthood

•

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

•

en:one patient has been reported (as of february 2012)

•

en:one of the most common autoimmune diseases

•

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

•

en:many adults with typical form remain ambulatory

•

en:leg pain during childhood

•

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

•

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

•

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

•

en:due to lack of epidermal ridging, patients lack fingerprints

•

en:conduction defect is progressive

•

en:carrier frequency in finland is 1 in 230

•

en:carrier females may show neuropsychologic impairment

•

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

•

en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)

•

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

•

en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)

•

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

•

en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:epilepsy, progressive myoclonic, 9

•

en:survival past infancy is rare

•

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

•

en:relapsing-remitting course

•

en:premature aging syndrome

•

en:onset usually in childhood or adolescence

•

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

•

en:onset of symptoms 2-12 months

•

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

•

en:onset in childhood (mean 6 years)

•

en:most common muscle disease of older persons

•

en:increased risk of miscarriage

•

en:increased prevalence in persons of ashkenazi jewish descent

•

en:inborn error of the pyrimidine degradation pathway

•

en:favorable response to 3,4-diaminopyridine

•

en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.

•

en:early death may occur

•

en:detected in 1/50,000 in neonatal screening programs

•

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

•

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

•

en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect

•

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:allelic to senior-loken syndrome 4 (606996)

•

en:21% of hereditary wilms tumor are bilateral

•

en:laboratory comment:txt:pt:report:nar

•

en:variable age at onset, from first decade to fourth or fifth decade of life

•

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

•

en:two families each with two affected children have been reported (last curated april 2015)

•

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

•

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

•

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

•

en:symptoms are not relieved by alcohol

•

en:spontaneous resorption (rare)

•

en:some patients show improvement during summer or with fever

•

en:some patients may have normal brain imaging

•

en:seven patients from 4 families in israel have been reported (last curated july 2015)

•

en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache

•

en:onset of calf hypotrophy may occur earlier

•

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

•

en:onset at 6-9 months

•

en:increased risk of developing early-onset aggressive cancers

•

en:homo sapiens do not have a functional l-gulonolactone oxidase gene

•

en:high disease prevalence among french-canadians

•

en:highly variable phenotype with regard to pigmentation

•

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

•

en:distribution of lesions may be generalized, palmoplantar, or acral

•

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

•

en:associated with the tau (157140) h1 haplotype

•

en:associated with idiopathic generalized epilepsy (ige, 600669)

•

en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470)

•

en:allelic disorder to schindler disease (609241)

•

en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)

•

en:adult onset of symptoms has been reported

•

en:15% cases are familial

•

en:variable age at onset (range 15 to 60 years)

•

en:treatment with dichloroacetate (dca) prolongs survival

•

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

•

en:severe epilepsy may lead to early death

•

en:seizures recur in 33% of patients

•

en:seizures are usually intractable

•

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

•

en:phenotypic overlap with frontotemporal dementia (600274)

•

en:patients can have als, ftd, or both

•

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

•

en:onset in utero, infancy, or early childhood

•

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

•

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

•

en:most patients have no bleeding abnormalities

•

en:most cases are responsive to steroids

•

en:less severe phenotype in females

•

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

•

en:excessive skin picking of sores

•

en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands

•

en:ataxia is nonprogressive

•

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

•

en:age of onset/diagnosis 12-35 years

•

en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis

•

en:2-3% due to imprinting defects

•

en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:wide phenotypic variability and severity

•

en:two families have been reported (as of 6/2011)

•

en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus

•

en:some families have axonal cmt (cmt2m)

•

en:slow course of functional deterioration compared to severity of mri findings

•

en:provoked by crying or emotional upset

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:patients often require implantation of a pacemaker

•

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

•

en:onset 5 to 7 years

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

en:majority of children die before age 2

•

en:half (50%) of affected patients have a recurrent episode with worse outcome

•

en:genetic heterogeneity (see ofc1, 119530)

•

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

•

en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)

•

en:complete manifestation in males

•

en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)

•

en:based on report of 2 unrelated girls (last curated august 2015)

•

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

•

en:adult onset (wide range of age)

•

en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable expressivity of each feature

•

en:sudden death in affected females occurs in the forties

•

en:phenotypic similarities to costello syndrome (218040)

•

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

•

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

•

en:onset in infancy was reported in 1 family

•

en:onset between 8 and 30 years

•

en:onset at birth or in first months of life

•

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

•

en:most individuals are wheelchair-bound or bedridden by adolescence

•

en:may be fatal

•

en:marked variability in the deletion size

•

en:marked phenotypic variability, even within an individual

•

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

•

en:increased risk of developing multiple primary cancers

•

en:incidence of 1 in 3,900 births among jewish persons

•

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

•

en:hepatomegaly improves with age and disappears around puberty

•

en:half of cases show retarded head circumference equal to height retardation

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:distinct disorder from parkinson disease (168600)

•

en:death in early infancy

•

en:death can occur in infancy

•

en:death at birth or within first 2 years of life (severe form)

•

en:brain anomalies variable

•

en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:variable age at onset, ranging from childhood to adult

•

en:tumor predisposition syndrome

•

en:subtle personality and behavioral changes are presenting signs

•

en:sparing of some nails in some individuals

•

en:retinal degeneration not always present

•

en:responsive to oral mannose therapy

•

en:reduced penetrance (approximately 54%)

•

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

•

en:presentation at 3-6 weeks of age

•

en:patients need lifelong total parenteral nutrition

•

en:patients do not exhibit skin pigmentation changes

•

en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present

•

en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade

•

en:onset in second decade

•

en:onset in infancy (1-2 years)

•

en:onset 6 to 18 months

•

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

•

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

•

en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)

•

en:multisystem decompensation in response to viral infection

•

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

•

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

•

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

•

en:majority of patients are pyridoxine-responsive

•

en:infants may die from apnea or aspiration

•

en:incidence of 1 in 1.5 million births

•

en:genetic heterogeneity (see 266900 for summary)

•

en:founder effect in irish traveler population

•

en:excessive posttraumatic blood loss

•

en:diurnal fluctuation of symptoms

•

en:disorder usually remains stable over time

•

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

•

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

•

en:based on one report of 4 unrelated sporadic patients

•

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

•

en:10% due to paternal deletion

•

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

•

en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative

•

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

•

en:relatively mild course

•

en:psychiatric symptoms may be the presenting sign

•

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

•

en:onset in infancy, but may not be diagnosed until later in mild cases

•

en:onset in first month of life

•

en:onset before age 20

•

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

•

en:one family with confirmed genetic basis has been reported (last curated september 2013)

•

en:loss of tumor suppressor gene

•

en:heterozygous female carriers may manifest symptoms

•

en:generalized dystonia in some cases

•

en:earliest age of onset 12 years of age

•

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

•

en:death usually in teenage years

•

en:broad-based gait

•

en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)

•

en:adult onset (45 to 76 years)

•

en:acetazolamide is often effective

•

en:visual acuity better than anticipated from ophthalmoscopic appearance

•

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

•

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

•

en:usually a sporadic disorder

•

en:two brothers in a french family have been reported (last curated march 2015)

•

en:thiamine supplementation may be beneficial

•

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

•

en:spontaneous resolution of seizures by 12 months of age

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

en:risk of death due to cardiac dysfunction

•

en:persistent bleeding after injury or surgery

•

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 contiguous gene deletion of 8q24 have more severe features

•

en:onset of hearing loss in first or second decade

•

en:onset in childhood or early adulthood

•

en:onset between 9 and 16 years

•

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

•

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

•

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

•

en:often identified in newborn period

•

en:no congenital form

•

en:most remit by 6 weeks (1-6 months)

•

en:incomplete penetrance

•

en:hyponatremia usually associated with gastroenteritis

•

en:female carriers may have mild mental retardation

•

en:favorable response to lenalidomide treatment

•

en:fatal without lung transplant

•

en:comprises several subtypes, including

•

en:complicated and pure forms

•

en:clinically 'silent' nystagmus evident on eye movement recording in carrier females

•

en:based on reports of one family and one patient (last curated december 2015)

•

en:atypical affected males, 'cardiac variants' 301500.0005 exist

•

en:associated with advanced paternal age

•

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

•

en:allelic to craniometaphyseal dysplasia (123000)

•

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

•

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

•

en:symptoms appear in early childhood and are progressive

•

en:some patients never achieve sitting

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:rare adult cases reported

•

en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2

•

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

•

en:onset of lymphedema around puberty

•

en:onset of linear striations between 5 months and 6 years (only in affected females)

•

en:onset in second decade or as young adult

•

en:onset in late teens to twenties

•

en:onset at age 36 years

•

en:only 46,xy individuals are affected

•

en:occurs in full-term infants

•

en:most patients are clinically asymptomatic and show normal development

•

en:most patients are asymptomatic and are detected by newborn screening

•

en:more common in males

•

en:mean age of onset 14-24 months

•

en:increased spontaneous abortions in carrier mothers

•

en:genomic duplications occur de novo

•

en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)

•

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

•

en:early death from respiratory failure may occur

•

en:carrier females may have mild features

•

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

•

en:variable expression and severity

•

en:trauma, im injection, surgery can be foci of ectopic ossification

•

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

•

en:some patients become wheelchair-bound

•

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

•

en:severity of skin symptoms may vary within families

•

en:patients retain ambulation even after long disease course

•

en:patients often become wheelchair-bound

•

en:onset second decade of life

•

en:onset ranges from childhood to young adulthood

•

en:onset of symptoms in second decade of life

•

en:onset of overgrowth in second to third month of life (in some cases)

•

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

•

en:microdeletion is approximately 1.5mb in length

•

en:mean age of onset 50 to 52 years

•

en:loss of ambulation within 10 years of onset

•

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

•

en:individuals develop ability to stand and walk

•

en:incomplete, but high, penetrance

•

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

•

en:genetic anticipation has been observed

•

en:first described in acadian population of louisiana

•

en:children rarely develop the disorder

•

en:brain mri abnormalities show improvement with time

•

en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900)

•

en:affected fetuses frequently undergo spontaneous abortion

•

en:variable age at onset of arrhythmia (range 12 to 59 years)

•

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

•

en:variable age at diagnosis

•

en:upper limb involvement in first decade

•

en:three families have been reported (last curated july 2013)

•

en:patients show sorbitol and glycerol intolerance

•

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

•

en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies

•

en:onset between ages 16-55

•

en:onset 13 to 63 years of age

•

en:one family with 5 affected members has been reported (last curated september 2012)

•

en:no increased fragility of hair

•

en:neurologic signs last hours to days

•

en:most patients die in infancy

•

en:most patients become wheelchair-bound in later childhood

•

en:mesomelia becomes more evident with age

•

en:mean age of onset 18 years

•

en:mean age of diagnosis is 40 years (range 11 to 79 years)

•

en:lesions increase in size and number with age

•

en:immunosuppressive therapy may be beneficial

•

en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)

•

en:does not result in renal failure

•

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

•

en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad

•

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

•

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

•

en:based on 1 reported family with oca6

•

en:allelic to pseudoachondroplasia (177170)

•

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

•

en:allelic disorder to spinal muscular atrophy type i (253300)

•

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

•

en:variable clinical phenotype

•

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

•

en:symptoms occur only during sleep

•

en:subset of patients have leigh syndrome (256000)

•

en:pathogenic alleles contain 71 to 1,300 repeats

•

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

•

en:onset between 2 to 20 years

•

en:neonatal or infant death

•

en:mean age at onset 12.5 years (range 2 to 15 years)

•

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

•

en:increased frequency in ashkenazi jewish population and in finland

•

en:incidence of 1 per 10,000 births in japan

•

en:improvement with age

•

en:highly variable severity and features

•

en:features are highly variable

•

en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia

•

en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae

•

en:distinct disorder from autosomal dominant hyper ige syndrome (147060)

•

en:central apneic episodes may be fatal

•

en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4)

•

en:wide range of severity between affected members of the same family

•

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

•

en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin

•

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

•

en:variable severity, intrafamilial

•

en:variable progression rate

•

en:variable phenotype within families

•

en:variable phenotype ranging from woolly to sparse hair, even within a single family

•

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

•

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

•

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

•

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

•

en:usual onset before age 6 years and death by age 20

•

en:usually a manifestation of the carney complex (cnc1, 1609890)

•

en:urine turns dark on standing and alkalinization

•

en:upper limb involvement occur later

•

en:type 2n shows autosomal recessive inheritance

•

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

•

en:two patients required liver transplantation

•

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

•

en:two consanguineous families with 2 patients each have been reported (last curated august 2015)

•

en:treatment with levodopa is not effective

•

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

•

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

•

en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia

•

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

•

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

•

en:thin, fine hair described in few individuals

•

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

•

en:symptoms relieved by ovarian suppression

•

en:symptoms present from infancy or early childhood

•

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

•

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

•

en:symptoms are often responsive to alcohol

•

en:survival 30 to 40 years after onset

•

en:sudden death may occur

•

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

•

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

•

en:spontaneously resolves by 5 to 6 months of age

•

en:spasticity is slowly progressive

•

en:some phenotypic overlap with rett syndrome (312750)

•

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

•

en:some patients with advanced loss of vision have normal eog

•

en:some patients show rapid disease progression

•

en:some patients report increased tolerance to heat

•

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

•

en:some patients may have residual muscle weakness

•

en:some patients may be clinically asymptomatic

•

en:some patients have additional neurologic involvement

•

en:some patients do not have dysmorphic features

•

en:some patients do not achieve independent ambulation

•

en:some patients become bedridden

•

en:some individuals may be clinically asymptomatic

•

en:slow progression without marked disability

•

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

•

en:skeletal and facial features are variable

•

en:six patients reported (last curated march 2015)

•

en:severe hypertension develops in childhood

•

en:severe ambulatory restriction

•

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

•

en:seizures are usually refractory at first

•

en:seizures are responsive to pyridoxine treatment

•

en:seizures are refractory to medication

•

en:see cmt4a (214400) for autosomal recessive demyelinating forms

•

en:see also cblc (277400)

•

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

•

en:responsive to vitamin b12 therapy

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:renal failure in second or third decade

•

en:reduced penetrance in females

•

en:reduced life expectancy

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:recurrence of symptoms after cholecystectomy

•

en:profound dementia and death usually occurs by age 50 years

•

en:prevalent in quebec

•

en:prevalence of sleepwalking up to 26% in childhood

•

en:prevalence of 7 in 100,000 live births

•

en:prevalence of 1 in 28,000 african-americans

•

en:prevalence of 1 in 227 hopi indians

•

en:presents at 2 to 3 months of age

•

en:prenatal or neonatal onset

•

en:possible increase of aneuploidy in offspring

•

en:phenotypic variability, intrafamilial

•

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

•

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

•

en:patients older than 60 years have severe degenerative arthritis in the feet

•

en:patients may show both optic neuropathy and dystonia or only 1 disorder

•

en:patients develop acute symptoms under physiologic stress due to illness

•

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

•

en:patients are often misdiagnosed with spherocytosis

•

en:pathogenic alleles have 19 to 33 repeats

•

en:paternal age effect

•

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

•

en:onset within first 6 months of life

•

en:onset usually in the first 4 years of life

•

en:onset ranges from young adulthood to sixties

•

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

•

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

•

en:onset of other symptoms in adolescence or early adulthood

•

en:onset of normal pressure hydrocephalus after age 65 years

•

en:onset of neuromuscular symptoms between 6 months and 1 year of age

•

en:onset of lipodystrophy later in childhood

•

en:onset of hearing loss in late childhood

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset of deafness and diabetes in adulthood

•

en:onset of ataxia in the fifties

•

en:onset of ataxia and neuropathy in early twenties

•

en:onset of alopecia in infancy

•

en:onset of acne in adolescence, persists into adulthood

•

en:onset of abnormal eye movements in early childhood

•

en:onset in utero or at birth

•

en:onset in second to third decades (postlingual)

•

en:onset in second decade, but sometimes earlier

•

en:onset in newborns or infants

•

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

•

en:onset in infancy or first years of life

•

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

•

en:onset in infancy or childhood

•

en:onset in first decade

•

en:onset in early infancy

•

en:onset in early childhood (age 3)

•

en:onset in childhood or young adulthood

•

en:onset in childhood, adolescence, and adulthood

•

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

•

en:onset beyond the second year of life

•

en:onset between second to sixth decades of life

•

en:onset between 3 and 11 years of age

•

en:onset before 50 years of age

•

en:onset at age 5 years

•

en:onset at 4 to 7 years

•

en:only some patients showed neurologic involvement

•

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

•

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

•

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

•

en:one patient reported with col3a1 mutation (120180.0020)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one family reported (as of may 2012)

•

en:one family of french-canadian origin has been reported (last curated july 2015)

•

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

•

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

•

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

•

en:one family had normal cognitive and neurologic development

•

en:one family described (last curated october 2013)

•

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

•

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

•

en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)

•

en:one-third of cases are familial

•

en:often results in death in childhood

•

en:often fatal in utero

•

en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa

•

en:occurs in the absence of trauma

•

en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

•

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

•

en:occasionally low-dose insulin required

•

en:obligate female carriers may show mild signs of muscle weakness, especially of the face

•

en:no systemic manifestations

•

en:no preceding skin inflammatory stage

•

en:no peripheral signs of hypothyroidism

•

en:no neurologic sequelae

•

en:not responsive to steroid treatment

•

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

•

en:normal neonatal course

•

en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats

•

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

•

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

•

en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

•

en:murcs association

•

en:multiple lesions in familial cases

•

en:most patients die in early childhood

•

en:most patients become wheelchair-bound

•

en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)

•

en:most cases result from de novo mutation or deletion of rai1 (607642)

•

en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

•

en:more than half of patients develop retinal detachments and/or retinoschisis later in life

•

en:more common in women (90%)

•

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

•

en:median age of onset of leukoplakia - 7 years (range 1-26 years)

•

en:mechanical ventilation may be required

•

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

•

en:may not be clinically manifest until middle life

•

en:may coexist with autoimmune vitiligo or thyroiditis

•

en:many patients become wheelchair-bound by second or third decade

•

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

•

en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

•

en:males may be more affected than females

•

en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)

•

en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

•

en:lifelong occurrence

•

en:less than 50% penetrance in some families

•

en:leigh syndrome, x-linked

•

en:joint symptoms begin in third or fourth decade

•

en:intermediate levels of factor x in mildly symptomatic heterozygotes

•

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

•

en:infants are stillborn or die shortly after birth

•

en:infantile onset

•

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

•

en:increased paternal age

•

en:increased frequency in the state of bahia, brazil

•

en:increased frequency in the finnish population

•

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

•

en:incomplete penetrance (about 80%)

•

en:incompletely penetrant phenotype in heterozygotes

•

en:incidence of 1 in 500,000 live births

•

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

•

en:incidence of 1 in 150,000 live births in the general population

•

en:incidence 1/20,000-1/64,000 male births

•

en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth

•

en:high prevalence among individuals of portuguese descent

•

en:high pain threshold

•

en:high infant mortality due to malnutrition as well as complications of parenteral nutrition

•

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

•

en:high early mortality rate if untreated

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:heterozygous carriers have an increased risk of metabolic dysfunction

•

en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents

•

en:hearing loss is usually severe by age 20 years

•

en:green jaundice occurs only in the context of liver failure or obstructive cholestasis

•

en:genetic heterogeneity (see pfm1, 168500)

•

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

•

en:genetic heterogeneity (see 606215)

•

en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)

•

en:genetic heterogeneity (ccm2 603284, ccm3 603285)

•

en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold

•

en:genetic anticipation occurs

•

en:genetic anticipation associated with progressive telomere shortening

•

en:four patients from 2 unrelated families have been reported (last curated april 2013)

•

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

•

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

•

en:flares triggered by viral infection, overexertion, stress

•

en:five reported patients, all boys (as of july 2009)

•

en:findings in muscle biopsy may be variable

•

en:fetal death

•

en:female predominance (4:1)

•

en:female carriers may have mild hearing impairment and/or mild signs of choroideremia

•

en:female carriers may have hearing loss and/or subclinical peripheral neuropathy

•

en:females tend to have earlier onset

•

en:favorable response to treatment with coenzyme q10

•

en:favorable response to rituxan (in some patients)

•

en:favorable response to high-dose steroids

•

en:fatigue

•

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

•

en:extreme sensitivity to chemotherapy

•

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

•

en:exacerbation of symptoms during or after pregnancy

•

en:evidence of incomplete penetrance in one family

•

en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy

•

en:episodes are followed by exhaustion and sleep

•

en:early death often occurs from cardiac failure or infection

•

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

•

en:early death in some patients due to cardiorespiratory involvement

•

en:difficulty walking

•

en:death within first year of life in 25%

•

en:death usually in newborn period or infancy

•

en:death secondary to respiratory infection or failure

•

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

•

en:death in the first decade, usually from liver failure

•

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

•

en:death about 20 years after symptom onset

•

en:corneal diameter decreases with decreasing axial length

•

en:contractures most severe by midadolescence

•

en:congenital onset

•

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

•

en:coloboma is associated with larger microdeletion (490kb) of 11q13

•

en:clinical features may vary

•

en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

•

en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years

•

en:chromosome rearrangements have been reported

•

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

•

en:childhood onset may occur

•

en:characteristic facial features become more apparent with age

•

en:cataract evident at birth

•

en:cataracts present at birth or develop in infancy

•

en:carcinomas tend to develop in mid or late adulthood

•

en:can be categorized into 3 groups

•

en:candidiasis is restricted to nails of hands and feet

•

en:breech position

•

en:both reported cases survived beyond infancy

•

en:bone fragility is not apparent at birth, but becomes evident within several months of life

•

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

•

en:based on report of 4 unrelated patients (last curated january 2016)

•

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

•

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

•

en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)

•

en:based on 1 4-generation chinese family

•

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

•

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

•

en:autosomal dominant omodysplasia has also been described (164745)

•

en:autonomic symptoms occur with headaches

•

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

•

en:associated with myoclonic epilepsy

•

en:associated with iron deficiency anemia

•

en:associated with deletion at chromosome 2q37

•

en:approximately half of the mutations are de novo

•

en:apparent in newborn at birth

•

en:aortic dissection may occur in second decade of life

•

en:alopecia usually occurs around puberty

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

•

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

•

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

•

en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)

•

en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity

•

en:allelic disorder to rett syndrome (312750)

•

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

•

en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)

•

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

•

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

•

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

•

en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)

•

en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)

•

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

•

en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)

•

en:age of onset varies (7 to 28 years of age)

•

en:age of onset third decade

•

en:age of onset from 10 to 40 years

•

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

•

en:age of onset 36 to 55 years (mean 47)

•

en:age of onset 28 to 70 years

•

en:age at onset 3 to 23 years

•

en:age at onset 15 to 25 years

•

en:affected infants die in neonatal period

•

en:affected individuals have amnesia for events

•

en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause

•

en:affected females are infertile

•

en:adult onset of muscle symptoms

•

en:adult onset (range 28 to 55 years)

•

en:adult onset (20 to 40 years)

•

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

•

en:absence seizures usually remit by puberty

•

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

•

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

•

en:1 patient reported (last curated may 2012)

•

en:'second wind' phenomenon

•

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

•

en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

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

•

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

•

en:worldwide prevalence of 1/100,000

•

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

•

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

•

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

•

en:variable survival

•

en:variable severity, even within families

•

en:variable age of onset (range early childhood to adult)

•

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

•

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

•

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

•

en:variable age at onset (birth to adult)

•

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

•

en:variable age at onset, range infancy to adult

•

en:variable age at onset, first to second decades

•

en:usually occurs in children younger than 5 years

•

en:usually lethal in the neonatal period

•

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

•

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

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)

•

en:two of 3 patients became wheelchair-bound

•

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

•

en:twinning due to superfetation

•

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

•

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

•

en:triggered by minor head trauma

•

en:tremor is aggravated by emotional stress

•

en:treatment with coq10 may result in some clinical improvement

•

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

•

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

•

en:three main clinical forms

•

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

•

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

•

en:surgical intervention is not always curative

•

en:sudden death in affected males occurs in teens

•

en:stable or slowly progressive course

•

en:spasticity occurs before parkinsonism

•

en:some patients report seasonal variation in symptoms

•

en:some patients may show deterioration with infections

•

en:some patients may present with myopathic features

•

en:some patients may not present until adulthood

•

en:some patients have subclinical exocrine pancreatic deficiency

•

en:some patients do not reach end-stage renal failure

•

en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes

•

en:slow, progressive growth, then stable

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:signs and symptoms depend on tumor location and activity

•

en:severe disorder

•

en:seizure severity and frequency tend to improve with age

•

en:seizures usually remit spontaneously by 12 months of age

•

en:seizures tend to occur upon awakening

•

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

•

en:seizures are poorly responsive to treatment

•

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

•

en:scalp hair quality improves during pregnancy

•

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

•

en:responsive to treatment

•

en:response to zinc supplementation

•

en:residual neurologic deficits are slowly progressive

•

en:reported in the ohio amish anabaptist community

•

en:reduced life expectancy, death by 10 years of age in 70% of patients

•

en:recurrent acute episodes

•

en:rapidly progressive episodes

•

en:radioresistant dna synthesis

•

en:pulsatile headache lasts hours to days

•

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

•

en:protracted course

•

en:progressive renal disorder

•

en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population

•

en:prevalence of 1 in 100,000

•

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

•

en:prevalence in sardinia is 1 in 14,000

•

en:prevalence in norway is 1 in 80,000

•

en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia

•

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

•

en:phenotypic overlap with currarino syndrome (176450)

•

en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080)

•

en:perinatal lethality

•

en:peak age of onset in second decade (range childhood to 50 years)

•

en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome

•

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

•

en:patients may become ventilator-dependent

•

en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

•

en:pathogenic cag repeat length is 51 to 78 triplets

•

en:partially responsive to laser treatment

•

en:ossification occurs spontaneously during childhood

•

en:onset usually before age 10 years

•

en:onset precipitated by fasting or illness

•

en:onset of visual dysfunction in early childhood

•

en:onset of symptoms less than one year

•

en:onset of symptoms in second or third decade (mean 25 years)

•

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

•

en:onset of lymphedema before puberty

•

en:onset of disease 7 months to 3 years

•

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

•

en:onset occurs earlier in males than females

•

en:onset may occur in adulthood

•

en:onset in the first 2 years of life

•

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

•

en:onset in mid-adulthood

•

en:onset in late adulthood (44 to 73 years)

•

en:onset in infancy or in the first months of life

•

en:onset in infancy (first hours to weeks of life)

•

en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age

•

en:onset in early adulthood (average 26 years)

•

en:onset in adolescence or adulthood

•

en:onset between the second and sixth decades

•

en:onset at birth or early childhood

•

en:onset at 2 to 15 years

•

en:onset age 32 to 45 years

•

en:onset 3 months of age up to 5 years

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

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

•

en:one patient reported (last curated november 2013)

•

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

•

en:one pakistani reported (last curated november 2012)

•

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

•

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

•

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

•

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

•

en:one family reported (as of november 2011)

•

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

•

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

•

en:one family from the old order amish has been reported (last curated january 2015)

•

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

•

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

•

en:one consanguineous pakistani family has been reported (last curated june 2015)

•

en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene

•

en:older patients become wheelchair-dependent

•

en:often presents with cranial or cervical involvement

•

en:occurs in about 1 in 10,000 births

•

en:no skin abnormalities

•

en:no opportunistic infections

•

en:no history of familial hypercholesterolemia

•

en:no family history of

•

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:noted in early childhood in most patients

•

en:normal ability to tolerate heat

•

en:non-progressive and more severe progressive forms

•

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

•

en:neuropsychiatric manifestations are variable

•

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

•

en:neonatal death secondary to pulmonary insufficiency

•

en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features

•

en:mutations show partial penetrance

•

en:most severe type of von willebrand disease

•

en:most retain independent ambulation

•

en:most patients need assistance walking or are wheelchair-bound

•

en:most children become wheelchair-bound

•

en:moroccan jewish and ashkenazi jewish families have been described

•

en:midline defects

•

en:mean survival 5 months

•

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

•

en:mean age at onset 57-60 years

•

en:mean age at onset 46.5 years (range 19-64)

•

en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))

•

en:marked phenotypic variability

•

en:many patients become wheelchair-bound later in life

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

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