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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1847612

Associations d'idées

[F]

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1000

en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001)

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en:one family reported (last curated november 2011)

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en:scalp hair quality improves during pregnancy

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en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect

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en:prognosis good

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en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)

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en:pathogenic alleles contain greater than 41 repeats

•

en:overlap with tourette syndrome (137580)

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en:onset of edema in childhood

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

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en:onset in first few years of life

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en:only women have been reported

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en:one report of brother and sister from nonconsanguineous parents

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

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en:neurologic symptoms may occur after trauma

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en:some patients may have normal brain imaging

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en:mode of inheritance is unclear

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en:limb malformations are variable

•

en:later onset has been rarely reported (up to age 68 years)

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en:intrafamilial variation

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en:heterozygotes are usually asymptomatic

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en:gradual progression of hearing loss

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en:generally mild phenotype

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en:death at 13 to 30 years

•

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

•

en:attacks are not responsive to acetazolamide

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en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)

•

en:allelic disorder to brachydactyly type b (113000)

•

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

•

en:sleep disturbance or sleep apnea (obstructive, central, or mixed)

•

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

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

•

en:individuals with the pcs trait are phenotypically normal

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en:risk of sudden death due to cardiac arrhythmias

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en:variable age at onset (birth to adult)

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en:rapidly progressive disorder

•

en:prevalence of 1 in 100,000

•

en:presents at birth or early childhood

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

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en:onset in infancy or first years of life

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en:onset between 6 and 12 months of age

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en:neonatal onset

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

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en:male to female ratio 21:8

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

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en:juvenile form has onset between 4 and 19 years

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en:respiratory distress may be precipitated by viral respiratory infection

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en:increased aneuploidy in offspring

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

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en:icelandic families

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en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250)

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en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)

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en:autosomal recessive inheritance has been reported (see 601253.0010)

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en:a second patient died at age 3 years

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

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en:early treatment can reduce neurologic symptoms

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en:four families have been reported (last curated october 2012)

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en:four patients have been reported (as of december 2009)

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en:genetic heterogeneity (see psnp1 601104)

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en:female carriers may have asymptomatic proteinuria or hypercalciuria

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

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en:onset of dystonia at 12 years

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

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en:risk of affected offspring in maternal translocation carrier - 4-10%

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en:see 607731 for an autosomal recessive form

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en:some patients do not manifest renal disease in the first decade of life

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en:some patients can attend special school

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en:variable age at onset (range 6 to 54 years)

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en:variable phenotypic expression

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en:onset in childhood or adolescence (median age of 9 years)

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en:onset in late infancy

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en:death usually in infancy or early childhood

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en:milder form with onset in childhood, absence seizures, and learning difficulties

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en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level

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en:genetic heterogeneity (bor2, 610896)

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en:favorable initial response to l-dopa

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

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

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en:death in infancy due to hyperthermia or apnea

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en:capillary malformation are apparent at birth

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en:a subset of patients may have congenital abnormalities of the ocular anterior segment

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en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26

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en:attacks tend to decrease with age

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en:associated with the tau (157140) h1 haplotype

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en:based on 4 patients in one family

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

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

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en:can be asymptomatic

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

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

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en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic

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en:sexual infantilism

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en:resembles pseudo-torch syndrome (251290)

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

•

en:onset in fourth to fifth decade

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en:onset at age 10 to 14 years

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en:onset age 14-28 years

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en:onset after third decade

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en:one male and 3 unrelated females have been reported (last curated october 2013)

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

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en:not responsive to steroid treatment

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en:haploinsufficiency of rps14 (130620)

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en:most affected males die of respiratory failure within the first months of life

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en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures

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en:familial cases are rare and show incomplete penetrance

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en:four clinically indistinguishable biochemically distinct forms

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en:warm weather and alcohol are alleviating factors

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en:colchicine treatment is not effective

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en:internal organ rupture may occur

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en:male-limited trait

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en:may not be clinically manifest until middle life

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

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en:mean age of onset in third decade

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en:majority of cases have bilateral involvement

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en:increased spontaneous abortions in carrier mothers

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en:patients with mutation in the nhlrc1 gene have slightly longer survival

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en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems

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en:onset of osteoarthritis in teens to early adulthood

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en:one consanguineous pakistani family has been described (last curated march 2015)

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

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en:most (80 to 90%) of cases result from deletions of the sts gene

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en:majority of wilms tumors are sporadic

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

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en:later onset associated with milder severity has been reported

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en:genetic heterogeneity, some patients not linked to fgfr3

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en:incidence of 1 in 6,000 males

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en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities

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en:growth retardation onset in utero

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en:condition is experienced by patients as harmless and is often discovered incidentally

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en:cause of death usually due to respiratory failure before adulthood

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en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)

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en:allelic with smith-mccort dysplasia (607326)

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en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

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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)

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

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en:precipitating factors include viral illness and pregnancy

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en:all features are unilateral

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

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en:some patients have subclinical exocrine pancreatic deficiency

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en:normal female secondary sexual characteristics

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

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en:seizures are poorly responsive to treatment

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en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities

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

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en:onset soon after birth

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

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en:onset in first or second decades

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en:onset 7 to 15 months of age

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

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en:onset in teens or young adulthood (range 13 to 45 years)

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en:mother had rubella infection during pregnancy with daughter

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en:favorable response to immunotherapy

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en:most individuals are asymptomatic

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en:allelic disorder is brugada syndrome (601144)

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en:associated with deletion at chromosome 2q37

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

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en:variable manifestations

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

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en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals

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en:improvement with age

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en:increased frequency in the state of bahia, brazil

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en:older individuals had moderate to severe hearing loss

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en:adult onset (45 to 76 years)

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en:usually asymptomatic

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en:uncommon and rare features seen in the most severely affected patients

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en:two main phenotypes, metabolic and neurologic

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en:triggered by minor head trauma

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en:persistent bleeding after injury or surgery

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en:onset usually in first or second decades

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en:onset of scoliosis as early as 2 years of age

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en:one patient reported with col3a1 mutation (120180.0020)

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

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en:mutant alleles have 47 to 63 repeats

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en:most severe form of gaucher disease

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en:mean age at onset 57-60 years

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en:limited clinical information provided on patients with bbs7 mutations

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

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en:incidence of 1 in 40,000 infants worldwide

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en:complete penetrance but extreme variability of phenotypic expression

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en:clinical and biochemical abnormalities disappear with age

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en:autosomal recessive cases have been reported

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en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)

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en:acral hemorrhagic variant

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en:(4) thiamine-responsive form

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en:adult onset - 100-1,000 repeats

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en:seizures last about 30 seconds to 3 minutes

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

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en:one report of mother and son (last curated august 2012)

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en:all reported mutations have occurred de novo

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en:sensorineural hearing loss may be presenting feature

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

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en:poor response to l-dopa

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en:phenotypically indistinguishable from hemophilia a (306700)

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en:phenotype may be influenced by maternal alcohol consumption during pregnancy

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en:onset of sleep terrors between age 4 and 12 years old

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en:onset of crises in early childhood

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en:onset between 13 to 37 years

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

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en:variable presentation

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

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en:may be same disorder as autosomal recessive optic atrophy 3 (258501)

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en:in some patients, qtc interval is prolonged only during exercise testing

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en:intrauterine fetal death

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en:hyperkeratosis often present at birth but may appear later

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

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en:gait difficulties and beginning of cognitive decline in first decade

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

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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:exacerbation at puberty

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en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found

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en:based on report of 2 sibs in 2008

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en:mucocutaneous immunodeficiency syndrome may be prominent

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

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en:possible gonadal mosaicism in one report

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en:symptoms can be prevented by strict dietary restriction

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en:prevalence 1-2% in northern european populations

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en:recurrent acute episodes

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en:spontaneous bleeding is rare

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en:left sided involvement occurs more frequently

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en:lesions increase in size and number with age

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en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

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en:in severe attacks, hemiplegia or coma may last days to weeks

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en:heterozygous carriers have an increased risk of metabolic dysfunction

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en:genetic heterogeneity (see lgmd1a 159000 for overview)

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en:female to male ratio, 1:1

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en:described in individuals of roma gypsy origin (founder mutation)

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en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000

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en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)

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en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)

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en:allelic disorder to usher syndrome type 1f (602083)

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en:two families have been reported (last curated january 2011)

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en:symptoms usually induced only by strenuous exercise

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en:usually death in utero or rarely in neonatal period

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

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en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years

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en:symptoms are responsive to cobalamin treatment

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

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en:onset between age 4 to 7 months

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

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

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en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)

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en:median age at onset is 21 years

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

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

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

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en:inflammatory arthritis may develop in 30% of patients

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

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en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder

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en:exacerbation following stress, decreased food intake, or alcohol use

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en:end-stage renal failure in first or second decade

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en:described in 3 unrelated infants (last curated january 2013)

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en:death may occur in infancy

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en:death in the first years of life

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

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

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en:autosomal recessive inheritance is most common

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en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system

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en:manifests in infancy (including neonatal lethal) or childhood

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en:maternal oligohydramnios

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

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en:onset in childhood or adolescence in most patients

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en:skin abnormalities tend to decrease with age

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en:patients with meb have less severe features and longer survival

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en:pedigrees compatible with autosomal dominant inheritance have been reported

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

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en:risk of sudden death with exertion

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en:infantile onset (in 1 patient)

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en:lower limb involvement occurs before upper limb involvement

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en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows

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en:highly variable intrafamilial severity

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en:female carriers may develop mild hearing loss as adults

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en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia

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en:caused by a defect in bile acid transport

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en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)

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en:anemia is responsive to corticosteroid treatment

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

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en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)

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en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)

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

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en:adult onset (range 15 to 53 years)

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en:acute encephalopathic episodes may occur

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en:two families reported (last curated september 2012)

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

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en:usually favorable response to treatment

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en:older patients become wheelchair-dependent

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en:variable age at onset, range infancy to adult

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

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en:variable clinical presentation

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

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

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en:sleep terrors usually remit during adolescence

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en:repeat is unstable if > 52 repeats

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en:phenotypic variability within families and among patients carrying the same mutation

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en:pathogenic alleles contain 75-11,000 repeats

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

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

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

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en:occurs in about 1 in 10,000 births

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en:genetic heterogeneity (see hcfp1, 601471)

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en:natural aversion to carbohydrates

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en:variable phenotype, some patients have very mild symptoms

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

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en:generalized fatigue

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en:approximately one-third of patients become seizure-free with age

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en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)

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en:good response to immunotherapy (intravenous igg or plasmapheresis)

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en:later onset of hearing loss in some patients

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en:majority of cases in manitoba indians, northeastern manitoba, canada

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en:most patients become wheelchair-bound after 20 to 30 years

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

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

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en:syncope

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en:spontaneous resolution by 12 months of age with no recurrence later in life

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en:some patients become wheelchair-bound

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:presents at a later stage than sporadic wilms tumor

•

en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23

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en:onset of fracture usually when child begins to walk

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en:onset of bleeding symptoms in childhood or young adulthood

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en:onset in the neonatal period (0-38 days)

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en:early death in patients with cloverleaf skull

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en:no cardiac or immune defects in patients from the 2 reported families

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en:isolated finding

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

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

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en:genetic heterogeneity (see mada, 248370)

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en:genetic heterogeneity (see 145410)

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en:described in families from western japan

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en:approximately 10% of als cases are familial

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

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en:two patients with point mutations in rad21 have been reported (last curated july 2012)

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en:systemic iron overload due to ineffective erythropoiesis

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en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)

•

en:typical onset in adulthood

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en:hyperlipidemia may be partially responsive to fat-restricted diet

•

en:visual symptoms present by late childhood

•

en:variable involvement of hematologic parameters

•

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

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en:regression in infancy (in some patients)

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en:recurrence of symptoms after cholecystectomy

•

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

•

en:prevalence of 1 in 240 zuni indians

•

en:patients often nonambulatory by the mid-twenties

•

en:onset in second to third decades (postlingual)

•

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

•

en:variable age at onset (8 to 62 years)

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en:hearing loss is usually severe by age 20 years

•

en:female carriers are unaffected or show neuropsychiatric features

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en:fatal before age 2 years

•

en:diurnal fluctuation of neurologic symptoms

•

en:childhood onset (average 4 to 6 years)

•

en:ataxia becomes evident at the end of the first year of life

•

en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570)

•

en:variable severity, ranging from 'typical' to 'severe' disease

•

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

•

en:onset after puberty

•

en:onset in childhood or early adolescence

•

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

•

en:onset birth to early childhood

•

en:onset between 1-3 years

•

en:onset before adolescence

•

en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)

•

en:onset 70-90 years

•

en:onset 6 months to 2.5 years

•

en:onset 50 to 65 years

•

en:onset 20-55 years of age

•

en:onset in first decades (males)

•

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

•

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

•

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

•

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

•

en:onset in childhood or second decade

•

en:onset of gastrointestinal tumors typically occurs in the second decade

•

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

•

en:onset of seizures ranges from 2 to 11 years

•

en:pain most commonly affects the trunk, extremities, pelvic region, buttocks

•

en:pain is noted to feel cold

•

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

•

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

•

en:onset of thrombocytopenia in early childhood

•

en:onset of symptoms usually in adulthood

•

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

•

en:one patient has been reported (as of curation date may, 2013)

•

en:onset in infancy or late childhood

•

en:onset of seizures in infancy or early childhood

•

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

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en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)

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

•

en:onset of insulin resistance may occur in childhood

•

en:onset of disease around 10 years of age

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en:onset of cardiomyopathy may occur several months after birth

•

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

•

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

•

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

•

en:neurologic symptoms are progressive

•

en:normal sialophorin gene

•

en:normal fertility

•

en:normal birth (finding)

•

en:normal alleles have 4 to 18 repeats

•

en:non-progressive and more severe progressive forms

•

en:new skin lesions stop appearing before adolescence

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

•

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

•

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

•

en:most patients remain ambulatory

•

en:most patients have no bleeding abnormalities

•

en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)

•

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

•

en:most common form of inherited, congenital hydrocephalus

•

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

•

en:no peripheral signs of hypothyroidism

•

en:occurs in full-term infants

•

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

•

en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)

•

en:one pakistani reported (last curated november 2012)

•

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

•

en:one of the most common autoimmune diseases

•

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

•

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

•

en:one large 4-generation uruguayan family reported (last curated august 2014)

•

en:one german family has been reported (as of september 2009)

•

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

•

en:occurs in the absence of trauma

•

en:patients are born with normal head circumference

•

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

•

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

•

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

•

en:one compound heterozygous patient reported (last curated february 2015)

•

en:one 4-generation chinese family has been reported (as of 04/2010)

•

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

•

en:part of 'dent disease complex' (see 300009)

•

en:prevalence of 1 in 150,000

•

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

•

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

•

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

•

en:tumor predisposition syndrome

•

en:trauma may accelerate symptoms

•

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

•

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

•

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

•

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

•

en:this patient died at age 8 months

•

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

•

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

•

en:symptoms occur only during sleep

•

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

•

en:sudden cardiac death in some families

•

en:subtype 3a comprises myoclonus and dementia

•

en:striking intrafamilial variability

•

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

•

en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1

•

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

•

en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

•

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

•

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

•

en:two loci control synthesis of c4, c4a (120810) and c4b (120820)

•

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

•

en:two patients with a wws phenotype have been reported

•

en:two patients required liver transplantation

•

en:two patients have been reported (as of august 2010)

•

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

•

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

•

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

•

en:spots occur in 95% of patients but can be absent

•

en:some patients respond to acetazolamide

•

en:patients may or may not have dysmorphic features

•

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

•

en:renal failure in second or third decade

•

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

•

en:rapidly progressive episodes

•

en:pulsatile headache lasts hours to days

•

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

•

en:prevalent in bulgarian gypsies

•

en:prevalence of 1 in 3,000

•

en:present in jewish yemenite population

•

en:response to acetazolamide

•

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

•

en:precipitated by infection, fasting, or intercurrent illness

•

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

•

en:poor or no response to glucocorticoid treatment

•

en:phenotypic variation in severity and symptoms

•

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

•

en:patients walk on tips of toes with dorsal foot deviated laterally

•

en:reported in 1 family (last curated may 2013)

•

en:some patients may have normal psychomotor development

•

en:some affected individuals have normal subsequent development

•

en:some patients may develop concurrent failure to thrive and dyslipidemia

•

en:some patients may be asymptomatic

•

en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations

•

en:some patients have additional neurologic involvement

•

en:some patients do not achieve independent ambulation

•

en:some females are affected

•

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

•

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

•

en:short stepped shuffling gait

•

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

•

en:seizures resolve by 4 months of age

•

en:most cases result from a de novo mutation

•

en:may be x-linked

•

en:more common in women

•

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

•

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

•

en:based on report of 1 3-generation family (last curated november 2014)

•

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

•

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

•

en:based on 1 reported family (last curated december 2013)

•

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

•

en:a severe infantile variant has been rarely reported

•

en:both demyelinating and axonal features

•

en:average age of onset 6 months (range birth - 2 years)

•

en:autosomal recessive inheritance has been reported

•

en:autosomal dominant inheritance has been reported in a single family

•

en:autonomic symptoms occur with headaches

•

en:associated with increasing age

•

en:associated with increased frequency of autoimmune diseases

•

en:associated with advanced paternal age

•

en:blistering tends to improve with age

•

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

•

en:anemia may show favorable response to alpha-interferon treatment

•

en:corneal diameter decreases with decreasing axial length

•

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

•

en:distinct disorder from familial limb-girdle myasthenia (254200)

•

en:decrease in seizure frequency in middle age

•

en:death often secondary to pneumonia or congestive heart failure

•

en:death may occur in early infancy

•

en:death in utero or early infancy

•

en:death in first weeks of life

•

en:contractures most severe by midadolescence

•

en:brain anomalies variable

•

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

•

en:congenital - over 2,000 repeats

•

en:common in afrikaan population, south africa

•

en:chromosome rearrangements gave been reported

•

en:characteristic face and body by age 2 years

•

en:carrier rate of 1 in 11 among old order amish

•

en:carrier females show no clinical phenotype

•

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

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:dysarthria, dysphonia, or cough precede onset of ataxia

•

en:(2) intermittent

•

en:acquired sporadic disorder

•

en:acquired disorder

•

en:accounts for 5-15% of childhood epilepsies

•

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

•

en:abnormal sensitivity to therapeutic radiation

•

en:50% of cases represent new mutations associated with advanced paternal age

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

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

•

en:affected individuals may have learning or behavioral problems during the period when seizures occur

•

en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 23: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 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

•

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

•

en:adult onset (forties)

•

en:age at onset 14 to 44 years

•

en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)

•

en:allelic disorder to opitz-kaveggia syndrome (305450)

•

en:allelic to robinow syndrome, autosomal recessive (268310)

•

en:allelic to rett syndrome (312750)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

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

•

en:allelic to deafness, autosomal recessive 23 (609533)

•

en:allelic disorder to the ivic syndrome (147750)

•

en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)

•

en:allelic disorder to nieman-pick disease type b (607616)

•

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

•

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

•

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

•

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

•

en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)

•

en:allelic disorder to cmt4a (214400)

•

en:age of onset ranges from neonate to adulthood

•

en:age of onset 6-10 years

•

en:does not lead to hepatic failure

•

en:earlier onset is associated with more aggressive disease course

•

en:mild symptoms may occur in teenage years

•

en:intolerant of heat

•

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

•

en:life-threatening infections

•

en:leg pain during childhood

•

en:later onset with a milder phenotype may also occur

•

en:laboratory findings are variable

•

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

•

en:intracellular accumulation of material may not always be apparent

•

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

•

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

•

en:increased tendency to chromosomal nondisjunction

•

en:increased susceptibility to neisseria infections

•

en:increased prevalence among the finnish

•

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

•

en:incidence of 1 in 1,000,000

•

en:incidence of 1/50,000 births

•

en:incidence - 1 in 25,000-100,000

•

en:liver disease may be the most predominant finding

•

en:madelung deformity more frequent and more severe in females

•

en:hyponatremia usually associated with gastroenteritis

•

en:may show good response to levodopa

•

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

•

en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2

•

en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported

•

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

•

en:mean age at onset for variant cjd is 29 years (before age 45 years)

•

en:mean age at onset 28 years

•

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

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:majority of cases (95%) are sporadic

•

en:may be fatal in infancy

•

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

•

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

•

en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)

•

en:many features are present only in an untreated patient

•

en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)

•

en:male to female ratio 4:1

•

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

•

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

•

en:early age of onset

•

en:favorable response to oral bile acid therapy

•

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

•

en:four clinical forms of krabbe disease

•

en:flares triggered by viral infection, overexertion, stress

•

en:female carriers may have subtle manifestations

•

en:females more severely affected than males

•

en:females are more often affected

•

en:fatal outcome if untreated

•

en:family history of sudden death, as early as fourth decade of life

•

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

•

en:episodes triggered by fasting, illness, fever

•

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

•

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

•

en:endocrine defects evolve over time

•

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

•

en:four patients have been reported

•

en:fractures occur in first few months, then decrease in frequency and then occur with ambulation

•

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

•

en:good seizure control with medication

•

en:high incidence of diabetes mellitus noted in opll patients

•

en:high frequency of de novo mutations

•

en:high frequency among french-canadians

•

en:highly variable severity

•

en:heterozygous mutation carriers may show mild symptoms

•

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

•

en:hearing loss may be stable or progressive

•

en:good response to gaba-enhancing medications

•

en:genetic heterogeneity, see spg5a (270800)

•

en:global developmental delay

•

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

•

en:genetic heterogeneity (see psnp2 609454)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic heterogeneity (see cftd1, 255310)

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:genetic heterogeneity (see 161800)

•

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

•

en:one family had normal cognitive and neurologic development

•

en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs

•

en:onset in infancy after weaning

•

en:onset may be prelingual or in childhood

•

en:onset in the first 2 years of life

•

en:onset in lower limbs

•

en:onset in late childhood or early teens

•

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

•

en:onset in infancy or childhood

•

en:onset in first hours to days of life

•

en:onset of contractures in utero

•

en:onset in first decade

•

en:onset in fifties or sixties

•

en:onset in early childhood after initial normal development

•

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

•

en:onset in adolescence or young adulthood

•

en:onset day of life 1-10 in infants fed lactose-containing milk

•

en:onset between 6 and 15 years

•

en:onset of cardiac symptoms in adolescence

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset between 10 and 20 years of age

•

en:opportunistic infection

•

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

•

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

•

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

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:paternal age effect

•

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

•

en:ossification evident 2-8 months following swelling

•

en:onset usually in infancy although later onset may occur

•

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

•

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

•

en:onset usually in childhood

•

en:onset of symptoms in fifth decade

•

en:onset of symptoms after age 5

•

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

•

en:onset of neurologic disease in early adulthood

•

en:onset of major clinical features in young adulthood

•

en:onset between 5 and 20 years

•

en:onset at birth or in first months of life

•

en:penetrance is usually complete by age 65 years

•

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

•

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

•

en:nphp shows autosomal recessive inheritance

•

en:no phenotype in heterozygotes

•

en:no opportunistic infections

•

en:normal at birth

•

en:normal alleles contain 6 to 28 repeats

•

en:normal ability to tolerate heat

•

en:night blindness from early childhood

•

en:oculomotor apraxia is not always present

•

en:neurologic findings closely resemble those of huntington disease (hd, 143100)

•

en:neonatal or infant death

•

en:neonatal death secondary to pulmonary insufficiency

•

en:neonatal and late-infantile onset

•

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

•

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

•

en:multiple prenatal fractures

•

en:occurs more frequently in females

•

en:often fatal due in infancy due to intractable diarrhea

•

en:onset 3rd to 4th decade of life

•

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

•

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

•

en:one patient with normal cognition has been reported

•

en:one patient reported (last curated november 2013)

•

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

•

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

•

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

•

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

•

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

•

en:often identified in newborn period

•

en:one family reported (last curated november 2013)

•

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

•

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

•

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

•

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

•

en:one chinese family with 14 affected individuals has been described (last curated february 2014)

•

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

•

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

•

en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress

•

en:most severe type of von willebrand disease

•

en:three families have been reported (as of 28 june 2011)

•

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

•

en:treatment with levodopa is not effective

•

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

•

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

•

en:three patients have been reported

•

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

•

en:three affected sibs have been reported

•

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

•

en:temperature instability

•

en:symptoms usually appear in adulthood

•

en:symptoms develop immediately after birth

•

en:sudden cardiac death frequent in affected families

•

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

•

en:stokes-adams syndrome

•

en:static, nonprogressive disorder

•

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

•

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

•

en:spontaneously resolves by 5 to 6 months of age

•

en:variable clinical phenotype

•

en:women affected more than men (3:2)

•

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

•

en:waddling gait, often presenting sign in second year

•

en:venous malformations previously referred to as angiomas or hemangiomas

•

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

•

en:variable manifestation of features

•

en:variable features and severity

•

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

•

en:two subtypes - seminoma and nonseminoma

•

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

•

en:usually follows a static course or is slowly progressive

•

en:uncommon disorder

•

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

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:spontaneous resolution of seizures by 12 months of age

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

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

•

en:ptosis is usually presenting feature

•

en:renal involvement and coloboma may not be present

•

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

•

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

•

en:rarely, patients may be asymptomatic

•

en:rapid disease progression

•

en:rapidly progressive course

•

en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)

•

en:psychiatric symptoms may be the presenting sign

•

en:risk of sudden death in childhood due to cardiac arrest

•

en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism

•

en:prevalence of approximately 1 in 2000 individuals

•

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

•

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

•

en:poor response to the c5 inhibitor eculizumab

•

en:phenotypic variation

•

en:phenotypic similarities to angelman syndrome (105830)

•

en:reported in the ohio amish anabaptist community

•

en:some patients have a crouzon-like appearance

•

en:seventy percent of cases have associated anomalies

•

en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe

•

en:some features may be progressive

•

en:slowly or nonprogressive

•

en:slc25a4 mutations account for approximately 4% of all peo cases

•

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

•

en:skeletal abnormalities are variable

•

en:severity of hematologic disorder decreases with advancing age

•

en:seizures remit by age 5 years

•

en:seizures may occur with illness

•

en:seizures may improve with age

•

en:motor impairment more significant than sensory impairment

•

en:most retain independent ambulation

•

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

•

en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)

•

en:a milder form has also been reported

•

en:average onset of seizures 6 months (range 3-12)

•

en:average age at onset 38 years

•

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

•

en:asymptomatic heterozygotes susceptible to lead toxicity

•

en:association of cardiac events with exercise

•

en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583).

•

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

•

en:approximately 40% of patients die within newborn period

•

en:all cases have been sporadic

•

en:allelic with retinitis pigmentosa 35 (610282)

•

en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis

•

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

•

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

•

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

•

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

•

en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age

•

en:allelic disorder to niemann-pick disease type a (257200)

•

en:clinical features based on 1 reported family (last curated august 2013)

•

en:death often occurs in childhood

•

en:contractures other than plantar are less common and less severe

•

en:contiguous gene deletion syndrome

•

en:considered to be a severe form of gaucher disease type ii (230900)

•

en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)

•

en:congenital disorders

•

en:comprises several subtypes, including

•

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

•

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

•

en:childhood onset may occur

•

en:changes more marked in hands than feet

•

en:cerebellar ataxia shows onset in young adulthood

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:cataracts variably present at birth

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:carrier females are normal

•

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

•

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

•

en:death usually within first weeks of life

•

en:variable response to vitamin b12 therapy

•

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

•

en:worsening of symptoms during sleep

•

en:wheelchair-bound after 2 decades of disease onset

•

en:visual impairment is present at birth and is progressive

•

en:virtually all patients with this condition are female

•

en:vast majority of heterozygotes are asymptomatic

•

en:variable survival

•

en:variable response to levodopa treatment

•

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

•

en:variable progression

•

en:variable clinical features

•

en:variable age of onset (childhood to adult)

•

en:variable age at onset (childhood to adulthood)

•

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

•

en:variable age at onset, but usually in childhood

•

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

•

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

•

en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)

•

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

•

en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)

•

en:age on onset - adolescence

•

en:age of onset 20-65 years

•

en:age at onset ranges from 50 to 70 years

•

en:affected infants appear normal

•

en:adult onset may occur

•

en:acute attacks rarely occur before puberty

•

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

•

en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:40 patients in 16 dominant kindreds reported (as of february 2012)

•

en:23 patients from 2 kindreds reported (as of february 2012)

•

en:12% due to epimutation

•

en:'second wind' phenomenon

•

en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:death within first decade

•

en:most patients die from heart failure

•

en:leigh syndrome, x-linked

•

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

•

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

•

en:long duration

•

en:liver involvement can range from mild to severe

•

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

•

en:less severe phenotype in females

•

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

•

en:left side involvement associated with serious cardiac defect

•

en:males are more commonly affected than females

•

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

•

en:lack of treatment results in early death

•

en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns

•

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

•

en:infants show normal size and appearance

•

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

•

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

•

en:majority of patients from italy and southwestern united states

•

en:male predominance

•

en:incidence 1/100,000 - 1/200,000 live births

•

en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)

•

en:most patients are female

•

en:most patients are asymptomatic

•

en:most cases occur de novo

•

en:mortality, premature

•

en:minimum duplication includes bhlha9 (615416)

•

en:mild phenotype onset - 11-18 months

•

en:mild disease course

•

en:mean age at resolution of symptoms 10 years

•

en:many patients recover normally

•

en:mean age at onset 33 years (range 20-60)

•

en:may be present in asymptomatic adults

•

en:may be fatal

•

en:may be benign condition

•

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

•

en:marked clinical heterogeneity

•

en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)

•

en:incidence of 1 in 57,000

•

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

•

en:decreased penetrance

•

en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol

•

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

•

en:female carriers may be mildly affected

•

en:febrile attacks disappear in adulthood in some patients

•

en:fatal without lung transplant

•

en:fatal multiorgan failure due to severe inflammatory response in some patients

•

en:facial dysmorphic features are mild

•

en:excessive postsurgical blood loss

•

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

•

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

•

en:dysmorphic facial features are variable

•

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

•

en:diurnal fluctuation

•

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

•

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

•

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

•

en:described in individuals of jewish bukharian descent

•

en:few familial (parent offspring) cases reported

•

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

•

en:hyperpigmented patches increased in size and number with age

•

en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)

•

en:high frequency of levodopa-induced dyskinesias

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:highly variable expression

•

en:heterozygous female carriers may manifest symptoms

•

en:hearing loss ma be fluctuating or progressive

•

en:headache duration 4-72 hours

•

en:has been described in patients of caucasus jewish origin

•

en:group b, found in france and united kingdom, severe phenotype

•

en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)

•

en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)

•

en:genetic heterogeneity (see madb, 608612)

•

en:genetic heterogeneity (see etl2, 608096)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:genetic heterogeneity (see bafme1, 601068)

•

en:genetic heterogeneity (see 259700)

•

en:genetic heterogeneity, see evr1 (133780)

•

en:reference lab test method:type:time reported elsewhere:reference lab test:narrative

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8036830 • caches: c1=6 c2=1002 c3=1

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