Diko : en:pigmentation not always butterfly-shaped

en:pigmentation not always butterfly-shaped

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umls:C4230217

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1000

en:'variant' form of x-linked cgd retains residual cytochrome b(-245)

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en:2 patients described

•

en:70% due to de novo maternal deletion of 15q11.2-q13

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en:75% of affected individuals are female

•

en:85-90% with manifestations in first months of life

•

en:a second family had mild intellectual disability

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en:a severe infantile variant has been rarely reported

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en:abnormal transferrin pattern tends to improve with age

•

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

•

en:about 25% of cases due to new mutations

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

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

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

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en:adult onset (25-45 years)

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en:adult onset of muscle symptoms

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en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance

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

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en:affected males are somatic mosaic for mutations

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en:affected, mild - 50-150 repeats

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

•

en:age at onset 15 to 25 years

•

en:age at onset ranges from 50 to 70 years

•

en:age at onset ranges from neonatal to adulthood

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en:age of onset from 18 to 45 years

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en:age of onset ranges from infancy to young adulthood (6 months-19 years)

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

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en:aggravated by physical activity

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en:aggressive malignancies

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en:all cases occur in old order amish, lancaster county, pennsylvania

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en:all cases presumed de novo mutation

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en:all cases sporadic (18 males, 7 females)

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en:all reported cases have occurred de novo

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en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820)

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en:allelic disorder is brugada syndrome (601144)

•

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

•

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

•

en:allelic disorder to cln8 (600143)

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en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)

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

•

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

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

•

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

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

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

•

en:allelic disorder to rett syndrome (312750)

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en:allelic disorder to the zlotogora-ogur syndrome (225000)

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

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en:allelic to acrocapitofemoral dysplasia (607778)

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en:allelic to acrokeratosis verruciformis (101900)

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

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en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

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

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en:allelic to hawkinsinuria (140350)

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

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

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en:allelic to mevalonic aciduria (610377)

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en:allelic to pachyonychia congenita jackson-lawler type (167210)

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

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en:allelic to sialuria, finnish type (604369)

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

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en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype

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

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en:anemia is transfusion-dependent

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en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia

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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:approximately 50% of patients have situs inversus

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en:approximately 60% of brrs patients have pten mutations

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en:approximately 80% of cs patients have pten mutations

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

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

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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)

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en:associated with increased paternal age

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en:attacks more common in women

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en:autonomic symptoms occur with headaches

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

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

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en:autosomal recessive inheritance has been described in 2 families

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en:average age at death is 37 years

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en:average age at onset 16.6 years

•

en:average age at onset 66 years although earlier onset may occur

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en:average age of onset 15 years (range 4 to 40)

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

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

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

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

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

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

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en:based on a report of 2 unrelated saudi patients (last curated september 2015)

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

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en:based on one large north american family (last curated august 2015)

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

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

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

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

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

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en:based on report of 1 large dutch pedigree (last curated july 2015)

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en:based on report of 2 sibs in 2008

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

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en:based on report of one 5-generation family (last curated december 2015)

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en:based on report of one indian family (last curated august 2015)

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

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en:begins in feet and legs (peroneal distribution)

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en:behavioral problems including stubbornness and rage

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en:benign trait

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en:birth incidence approximately 5.1 per million live births

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en:blistering and erosions tend to occur on extensor surfaces or over bony prominences

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en:blood glucose monitor with integrated lancing/blood sample

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

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en:both homozygous and heterozygous ednrb mutations have been found

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en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri

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

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en:bullae are located randomly in familial cases and apical in sporadic cases

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en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives

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en:cancer onset usually in mid-adulthood

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en:carcinomas tend to develop in mid or late adulthood

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en:cardiomyopathy may develop later in the disease

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

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en:cataracts present at birth or develop in infancy

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en:caused by inborn error in bile acid synthesis

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

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en:caused by paternally-inherited inactivating gnas1 mutations

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en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype

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en:childhood onset (range birth to 12 years)

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en:chromosomal hypersensitivity to ionizing radiation and alkylating agents

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en:chromosome rearrangements have been reported

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

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en:classic severe form shows onset at 2 to 3 months of age

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en:clinical and biochemical abnormalities improve with age

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

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

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en:clinically classified into classic, atypical, and intermediate phenotypes

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en:clinically mimics congenital torch infections (see 251290)

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en:clubfoot is bilateral in most patients

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en:codominant inheritance has been suggested

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en:cold temeratures exacerbate symptoms

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

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

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en:complete absence of melanin synthesis

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en:complete penetrance with variable expressivity

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en:compound heterozygosity common

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

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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:congenital onset or onset before 2 years (prelingual)

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en:contiguous gene deletion syndrome of 5q31

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en:contractures most severe by midadolescence

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en:crisis precipitated by high altitude exposure

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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:de novo mutation identified in some patients

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en:de novo mutation in some cases

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en:deafness is presenting symptom

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

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en:death due to respiratory insufficiency within minutes to hours after birth

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

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en:death in early infancy

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en:death in first days or months of life

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en:death in infancy

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en:death in infancy secondary to pulmonary insufficiency

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en:death in utero or in early infancy is common

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en:death often occurs in childhood

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

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en:death usually by 1 year of age

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en:death usually in newborn period or infancy

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en:death usually occurs by 12 months of life

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en:death usually occurs in childhood

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en:death within 12 months

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en:death within 3 months of life

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en:death within first months or years of life

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en:decrease in frequency and severity of episodes in young adulthood

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en:decreased bilirubin concentration with phenobarbital administration

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en:described in families from galicia, spain

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

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en:development of afebrile seizures later in childhood

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en:diagnosis in seventh decade of life

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en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)

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en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses

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en:disability by end of first decade

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en:disease exacerbation during summer due to heat

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en:disease usually progresses in a cephalocaudal direction

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

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

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en:distinct disorder from galactosemia (230400)

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en:does not lead to hepatic failure

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en:dopa-responsive rigidity

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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:dystonia and seizures may persist after resolution of episodes

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en:earlier onset associated with faster progression and shorter life span

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en:early age of onset

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en:early death (in some patients)

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en:early death due to infection

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en:early death due to sepsis

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

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

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en:early onset (1 month to 4 years)

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en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood

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en:endocrine abnormalities confined to kidney

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en:episodes last 1 to 2 days

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en:episodes last 2 days to 1 week

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

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en:episodes tend to decrease with age

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en:episodic

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

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en:estimated frequence 1/3000 to 1/5000

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

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en:estimated incidence of 1-2 in 10,000

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en:evidence of incomplete penetrance in one family

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en:evidence of systemic iron overload seen in 1 family

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en:existence as a distinct entity is not confirmed

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en:extreme clinical heterogeneity

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en:extreme sensitivity to chemotherapy

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en:eye and vestibular findings were found in some members of one family

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en:facial dysmorphic features may not be present and may become less apparent in adulthood

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en:familial (10%) and isolated cases

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en:familial cases are rare and show incomplete penetrance

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en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)

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en:familial form

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en:family a had a severe multisystem disorder resulting in death before age 2 years

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en:family b had a milder phenotype

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en:favorable response to bh4

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en:favorable response to clonazepam

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en:favorable response to lenalidomide treatment

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en:favorable response to oral bile acid therapy

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en:favorable response to rituxan (in some patients)

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en:features occur episodically

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en:febrile attacks disappear in adulthood in some patients

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en:female carriers may show mild learning disabilities

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en:fetal death

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en:fetal death usually occurs

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en:fever of unknown origin

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en:few patients with mild to moderate mental retardation

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

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en:five clinical variants of msud unassociated with genotype

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

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

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

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

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

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

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

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

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en:frequency of attack, monthly - bimonthly

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

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en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)

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en:genetic anticipation

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

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en:genetic heterogeneity (see 166600)

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en:genetic heterogeneity (see 604559)

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en:genetic heterogeneity (see 610168)

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en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)

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en:genetic heterogeneity (see bfic2, 605751)

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en:genetic heterogeneity (see cmt2b2, 605589)

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en:genetic heterogeneity (see cmt4b1, 601382)

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en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)

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en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)

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en:genetic heterogeneity (see enfl1, 600513)

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en:genetic heterogeneity (sli2 606712, sli3 607134)

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en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)

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

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en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)

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

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en:genetic heterogeneity, see fhm1 141500

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en:glucocorticoid deficiency occurs in mid-childhood

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en:gms is goniodysgenesis, mental deficiency, and short stature

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en:good response to gaba-enhancing medications

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en:good response to levodopa treatment

•

en:green color resolves if cholestasis is treated

•

en:group b patients die by 3 months of age

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en:group c is relatively benign

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en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

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en:haploinsufficiency of grn (138945)

•

en:hearing impairment may improve with age

•

en:hearing loss is pre- or perilingual in onset

•

en:hearing loss may vary in severity and range between ears

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

en:hepatic failure develops in first months of life

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

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en:heterozygous female carriers may manifest symptoms

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en:heterozygous females may exhibit variable degrees of enzyme deficiency

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en:heterozygous females more mildly affected than hemizygous males

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en:heterozygous mutation carriers may show mild symptoms

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

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en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe

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en:highly variable frequency and severity of attacks

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en:highly variable organ involvement and severity

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en:highly variable phenotype and severity

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en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence

•

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

•

en:hypersensitivity to ionizing radiation

•

en:hyperthermia in early childhood

•

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

•

en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion

•

en:immunosuppressive therapy may be beneficial

•

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

•

en:inborn error of the pyrimidine degradation pathway

•

en:incidence 5-50 per million (children) and 10-40 per million (adults)

•

en:incidence of 1 in 100,000

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en:incidence of 1 in 100,000 births

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en:incidence of 1 in 100,000 births in caucasians

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

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en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region

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

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

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en:incidence of 12.2 per 100,000 in finland

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

•

en:incomplete penetance of some features

•

en:incomplete penetrance (50%)

•

en:incomplete penetrance (about 80%)

•

en:incomplete, age-associated penetrance

•

en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)

•

en:increased frequency in ashkenazi jewish population and in finland

•

en:increased frequency in the finnish population

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

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en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

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en:increased prevalence among smokers

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en:increased prevalence among the finnish

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en:increased prevalence among women

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en:increased risk of post-splenectomy thrombotic complications

•

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

•

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

•

en:inflammatory arthritis may develop in 30% of patients

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en:inheritance may be x-linked dominant

•

en:initial development may appear normal

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en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes

•

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

•

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

•

en:intermediate expression in females

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en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

•

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

•

en:intrafamilial variability in number of missing teeth

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en:intrafamilial variation

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en:kid syndrome and hid syndrome are identical at the molecular level

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

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en:late-adult onset (age 50 or later)

•

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

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

•

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

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

•

en:later onset of ophthalmoparesis

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en:later onset with a milder phenotype may also occur

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

en:lesions appear in infancy or early childhood

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

•

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

•

en:less than 50% penetrance in some families

•

en:lethal in males

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en:liver failure episodes associated with fever

•

en:liver size returns to normal after 3 months to 3 years

•

en:liver symptoms improve with age and disappear after puberty

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en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)

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en:loss of independent ambulation in the second decade

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en:lower limb involvement occurs before upper limb involvement

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en:macular dystrophy, patterned, 2

•

en:majority of cases (95%) are sporadic

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en:majority of cases are sporadic, often in tall, thin men

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en:majority of cases in japan

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en:majority of cases sporadic

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en:majority of children die before age 2

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

•

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

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en:male patients have more severe disease than female patients

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en:male to female ratio 21:8

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

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en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces

•

en:males more affected than females (2 to 2.5:1)

•

en:males tend to have earlier onset than females

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en:many patients become wheelchair-bound later in life

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en:many patients recover normally

•

en:marked phenotypic variability, even within an individual

•

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

•

en:maternal breast milk is protective

•

en:may manifest as 'ataxic' phenotype without parkinsonian features

•

en:may occur in adults (also in pregnancy)

•

en:may regress

•

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

•

en:may result in early death

•

en:mean age at diagnosis 16 years (range 6 to 22)

•

en:mean age at onset 10.6 years

•

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

•

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

•

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

•

en:mean age at onset of muscle disease is 42 years (range 24-61)

•

en:mean age of onset 14-24 months

•

en:mean age of onset, 5 years

•

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

•

en:median age of onset of pancytopenia - 10 years (range 1-32 years)

•

en:median life expectancy, 13.4 years

•

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

•

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

•

en:mesomelia becomes more evident with age

•

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

•

en:microdeletion is approximately 1.5mb in length

•

en:mild disease course

•

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

•

en:mildly progressive

•

en:miscellaneous

•

en:moderate age-related improvement of pancreatic function

•

en:more frequent in individuals of asian descent

•

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

•

en:mortality approximately 20% in first 2 years

•

en:mosaic distribution of lesions

•

en:most case are sporadic

•

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

•

en:most cases are isolated

•

en:most cases are responsive to steroids

•

en:most cases do not have mutations in the mapt gene, but map to chromosome 17q

•

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

•

en:most mutations occur de novo

•

en:most patients are clinically asymptomatic and show normal development

•

en:most patients are severely affected

•

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

•

en:most patients lose ambulation 2 years after onset

•

en:most patients remain ambulatory

•

en:most patients require renal transplantation

•

en:most remit by 2 months

•

en:most retain independent ambulation

•

en:motor symptoms show mild clinical improvement with levodopa treatment

•

en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)

•

en:multiple seizures daily at onset

•

en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)

•

en:myoclonus occurs at rest and with action

•

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

•

en:neurologic signs may not be present

•

en:neurologic signs onset during adolescence or young adulthood

•

en:neurologic symptoms are progressive

•

en:neurologic symptoms may occur after trauma

•

en:newborn period is critical for survival

•

en:no clinical details provided by the authors

•

en:no dysmorphic features

•

en:no features consistent with cystic fibrosis found in these patients

•

en:no preceding skin inflammatory stage

•

en:no systemic manifestations

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

•

en:nonsyndromic disorder

•

en:normal ability to tolerate heat

•

en:normal alleles have 4 to 18 repeats

•

en:normal growth and development after 1 year of age

•

en:normal in neonatal period

•

en:normal neonatal blood phenylalanine has been reported in rare patients

•

en:normal sclerae and teeth

•

en:normal sweat electrolytes

•

en:not all patients have a myopathy

•

en:not all patients have facial dysmorphism

•

en:not responsive to biotin treatment

•

en:obligatory heterozygotes are clinically unaffected

•

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

•

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

•

en:occurs in full-term infants

•

en:occurs in ~3% pregnancies in western populations

•

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

•

en:odor of 'sweaty feet'

•

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

•

en:often associated with syringomyelia (186700)

•

en:older individuals had moderate to severe hearing loss

•

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

•

en:one consanguineous arab israeli family has been reported (last curated february, 2013)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one patient has been reported (last curated march 2016)

•

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

•

en:one patient with normal psychomotor development has been reported

•

en:one six-generation family from northern china has been reported (last curated august 2015)

•

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

•

en:onset 10-20 years of age

•

en:onset 13-15 years

•

en:onset 3 months of age up to 5 years

•

en:onset 6 to 30 years

•

en:onset 7 to 15 months of age

•

en:onset 8-20 years

•

en:onset <30 months

•

en:onset age 20 to 51 years

•

en:onset at 2 to 4 years

•

en:onset at 4 to 10 years

•

en:onset at 4 to 9 weeks of age

•

en:onset at 6-36 hours of life

•

en:onset before age 40 years

•

en:onset before age 5 years in the absence of instruction

•

en:onset between 1-3 years

•

en:onset between 15 and 27 years

•

en:onset between 35-43 years of age

•

en:onset between 5 and 20 years

•

en:onset between 6 and 12 months of age

•

en:onset between 6 and 15 years

•

en:onset between 6 and 9 months after normal early development

•

en:onset between age 4 to 7 months

•

en:onset between the second and sixth decades

•

en:onset beyond the second year of life

•

en:onset birth to early childhood

•

en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family

•

en:onset by age 2 years

•

en:onset from birth

•

en:onset from first to third decades of life

•

en:onset in adolescence to early adulthood

•

en:onset in childhood (3 to 10 years)

•

en:onset in childhood (range 1 to 9 years)

•

en:onset in childhood (usually before age 5 years)

•

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

•

en:onset in early childhood (age 3)

•

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

•

en:onset in early infancy, between 2 weeks and 3 months

•

en:onset in feet and legs (peroneal distribution)

•

en:onset in females ranges from third to seventh decade

•

en:onset in first 8 weeks of life

•

en:onset in first decade (average 5 years)

•

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

•

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

•

en:onset in first month of life

•

en:onset in first months of life

•

en:onset in first or second decade (range infancy to teenage years)

•

en:onset in infancy (1-2 years)

•

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

•

en:onset in infancy (first year of life)

•

en:onset in infancy after normal birth and neonatal period

•

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

•

en:onset in infancy or early childhood

•

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

•

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

•

en:onset in late childhood or adulthood

•

en:onset in late childhood or early teens

•

en:onset in mid to late childhood

•

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

•

en:onset in teenage or young adult years

•

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

•

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

•

en:onset in the sixth or seventh decades

•

en:onset in utero or at birth

•

en:onset in utero, infancy, or early childhood

•

en:onset in young adulthood

•

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

•

en:onset of acanthosis nigricans correlates with onset of diabetes

•

en:onset of arthritis in early childhood

•

en:onset of ataxia and neuropathy in early twenties

•

en:onset of bleeding in infancy or early childhood

•

en:onset of calf hypotrophy may occur earlier

•

en:onset of choroideremia in second to third decade

•

en:onset of chronic progressive polyneuropathy in late childhood

•

en:onset of deafness in early childhood

•

en:onset of disease 3-30 years

•

en:onset of disease 7 months to 3 years

•

en:onset of disease after fourth decade of life

•

en:onset of disease around 10 years of age

•

en:onset of disease before 7 years of age

•

en:onset of disease in fourth or fifth decade of life

•

en:onset of disease in late childhood

•

en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:onset of edema in childhood

•

en:onset of hearing loss in childhood

•

en:onset of hearing loss in first or second decade

•

en:onset of liver involvement in infancy

•

en:onset of muscle weakness in late adulthood

•

en:onset of neurologic events can occur between 4 and 35 years of age

•

en:onset of normal pressure hydrocephalus after age 65 years

•

en:onset of optic atrophy in childhood

•

en:onset of optic atrophy in infancy or early childhood

•

en:onset of parkinsonism in first decade

•

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

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of renal dysfunction in early childhood

•

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

•

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

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset of symptoms age 5-30

•

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

•

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

•

en:onset of symptoms usually between 12-15 years

•

en:onset of symptoms usually in adulthood

•

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

•

en:onset prenatally or at birth

•

en:onset ranges from birth to age 4 years

•

en:onset soon after birth or within the first year of life

•

en:onset usually after viral-like infection

•

en:onset usually at birth, but may occur later

•

en:onset usually before age 40 years

•

en:onset usually in infancy or childhood

•

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

•

en:onset usually in late adolescence or early adulthood (range 15 to 45 years)

•

en:onset usually in second or third decades

•

en:onset usually in the first 4 years of life

•

en:onset usually in third decade of life

•

en:other half show head circumference more retarded than height

•

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

•

en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients

•

en:overlapping features of digeorge syndrome

•

en:painful cramping following ischemic exercise test

•

en:pancreatic endocrine abnormalities reported in 1 family only

•

en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)

•

en:part of 'dent disease complex'

•

en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

•

en:partial factor viii deficiency in heterozygous carriers

•

en:partially responsive to laser treatment

•

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

•

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

•

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

•

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

•

en:patients are prone to impaired thermoregulation

•

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

•

en:patients become wheelchair-bound as adults

•

en:patients do not exhibit skin pigmentation changes

•

en:patients do not have clinical hypothyroidism

•

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

•

en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:patients may or may not have dysmorphic features

•

en:patients need lifelong total parenteral nutrition

•

en:patients often have a more severe and complicated phenotype in addition to peo

•

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

•

en:patients often require cardiac transplantation

•

en:patients present with groin pain

•

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

•

en:patients usually require total thyroidectomy

•

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

•

en:patients with the autosomal recessive disorder have a more severe phenotype

•

en:pedigrees compatible with autosomal dominant inheritance have been reported

•

en:persistent bleeding after injury or surgery

•

en:phenotype is classically defined as aplasia cutis and transverse limb defects

•

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

•

en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:poland syndrome can be associated with moebius syndrome (157900)

•

en:polg mutations account for approximately 45% of all peo cases

•

en:poor response to acetylcholinesterase inhibitors

•

en:poor response to levodopa treatment

•

en:positive response to treatment with growth hormone

•

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

•

en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070

•

en:possible gonadal mosaicism in one report

•

en:precipitated by mechanical compression or pressure on nerve

•

en:prelingual onset

•

en:premature aging syndrome

•

en:prenatal diagnosis by ultrasound

•

en:preponderance of affected females (80%) to males

•

en:presentation after 18 months

•

en:presentation at 3-6 weeks of age

•

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

•

en:presents at a later stage than sporadic wilms tumor

•

en:presumed autosomal dominant with incomplete penetrance

•

en:prevalence approximately 1 in 4,000 males

•

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

•

en:prevalence in finland is 1 in 25,000

•

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

•

en:prevalence of 1 in 227 hopi indians

•

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

•

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

•

en:prevalence of approximately 1 in 2000 individuals

•

en:prevalence of sleepwalking up to 26% in childhood

•

en:prevalent in bulgarian gypsies

•

en:prevalent in north africa

•

en:prevalent in sweden

•

en:progression in adulthood

•

en:progression more frequent in men than women

•

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

•

en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade

•

en:progressive disease

•

en:progressive disease is seen in some patients

•

en:progressive disorder, usually with rapid, relentless course

•

en:progressive or slowly progressive

•

en:psychiatric symptoms may be the presenting sign

•

en:range of onset 11 to 50 years

•

en:rapid disease progression from ages 40 to 50 years

•

en:rapidly progressive

•

en:rapidly progressive deterioration (in some patients)

•

en:rare spontaneous improvement occurs (8%)

•

en:recurrent bacterial infection

•

en:recurrent bacterial infections with onset in the first or second year of life

•

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

•

en:reduced life expectancy

•

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

•

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

•

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

•

en:reference lab test name:type:time reported elsewhere:reference lab test:nominal

•

en:regional, racial, and ethnic clustering has been noted

•

en:relapsing-remitting course

•

en:relatively benign course

•

en:relatively benign course after acute episodes in childhood

•

en:relatively slow progression

•

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

•

en:renal anomalies are not always present

•

en:reported cases all sporadic

•

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

•

en:reported in the ohio amish anabaptist community

•

en:reported patients are asymptomatic

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:resembles pseudo-torch syndrome (251290)

•

en:residual neurologic deficits are slowly progressive

•

en:respiratory distress may be precipitated by viral respiratory infection

•

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

•

en:responsive to oral mannose therapy

•

en:retinal hemorrhages usually resolve without sequelae

•

en:rickets and premature primary tooth loss occur in childhood

•

en:risk of sudden death due to cardiac defects

•

en:second most common form of usher syndrome type i

•

en:secondary hemorrhage

•

en:secondary tumors develop within the skin lesions

•

en:see also oca1a (203100)

•

en:see ebn1 (121200) for an autosomal dominant form

•

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

•

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

•

en:seen more frequently in infants of diabetic mothers

•

en:seizure onset after 3 months

•

en:seizure onset between 3 and 11 years

•

en:seizures are refractory

•

en:seizures last about 30 seconds to 3 minutes

•

en:seizures may be refractory

•

en:seizures may improve with age

•

en:seizures may persist into adulthood

•

en:seizures recur in 33% of patients

•

en:seizures remit in early childhood

•

en:seizures remit in later childhood

•

en:seizures tend to become more focal with age

•

en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 15: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 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:severe ambulatory restriction

•

en:severe clinical course

•

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

•

en:sexual infantilism

•

en:sib b did not receive mmr vaccination and was asymptomatic in infancy

•

en:signs and symptoms depend on tumor location and activity

•

en:single lesions in sporadic cases

•

en:single mitochondrial dna deletions are found in sporadic kss patients

•

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

•

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

•

en:six patients reported (last curated march 2015)

•

en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions

•

en:skeletal and facial features are variable

•

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

•

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

•

en:skin changes are progressive in childhood

•

en:skin changes have onset in childhood

•

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

•

en:skin manifestation less frequently observed in cold climates

•

en:skin peeling exacerbated by heat, friction, and humidity

•

en:skin wrinkling improves with age

•

en:sleep terrors usually remit during adolescence

•

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

•

en:somatic or germline mosaicism may occur

•

en:some affected family members are asymptomatic

•

en:some affected individuals have normal subsequent development

•

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

•

en:some carrier females have mild features

•

en:some familial occurrence, most de novo aberrations

•

en:some features are variable

•

en:some features are variably present

•

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

•

en:some laboratory abnormalities may fluctuate or improve with time

•

en:some mutation carriers have mild features of frontonasal dysplasia (613451)

•

en:some patients become bedridden

•

en:some patients develop ophthalmoplegia in middle age

•

en:some patients do not have dysmorphic features

•

en:some patients experience respiratory infections in association with episodes of jaundice in childhood

•

en:some patients have a crouzon-like appearance

•

en:some patients have additional neurologic involvement

•

en:some patients have isolated cfeom

•

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

•

en:some patients have no neurologic abnormalities

•

en:some patients have onset in second decade of life

•

en:some patients may become wheelchair-bound

•

en:some patients may develop interictal progressive ataxia

•

en:some patients may have a milder phenotype

•

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

•

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

•

en:some patients may have normal psychomotor development

•

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

•

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

•

en:some patients may show deterioration with infections

•

en:some patients never achieve sitting

•

en:some patients never gain ambulation or become wheelchair-bound

•

en:some patients report increased tolerance to heat

•

en:some patients respond to acetazolamide

•

en:some patients show delayed development from birth

•

en:some patients show improvement during summer or with fever

•

en:some patients show normal development until onset of disorder

•

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

•

en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features

•

en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

•

en:spinal involvement improves with age

•

en:spontaneous resolution usually after 12 months of age

•

en:spontaneously resolves by 5 to 6 months of age

•

en:stillborn or infantile death usual in prenatal form

•

en:subclavian artery supply disruption in embryogenesis has been suggested as etiology

•

en:subset of patients have leigh syndrome (256000)

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

en:sudden cardiac death frequent in affected families

•

en:sudden death in affected females occurs in the forties

•

en:sudden death within first days of life

•

en:survival greater than one year rare

•

en:survivors develop dysautonomia-like symptoms

•

en:susceptibility to infections start in the first year of life

•

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

•

en:symptoms are aggravated by febrile illness

•

en:symptoms begin focally, later segmental or generalized

•

en:symptoms benefit from sleep

•

en:symptoms improve during the summer

•

en:symptoms improve following sleep

•

en:symptoms induced by strenuous exercise

•

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

•

en:symptoms often decrease or remit with age

•

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

•

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

•

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

•

en:symptoms precipitated by sudden movements

•

en:symptoms progress with worsening myopathy

•

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

•

en:symptoms usually occur in adults

•

en:syncope

•

en:tendency to lighter pigmentation than unaffected relatives

•

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

•

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

•

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

•

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

•

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

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:thiamine supplementation may be beneficial

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

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

•

en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)

•

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

•

en:three patients have been described (last curated january 2013)

•

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

•

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

•

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

•

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

•

en:three sibs born of consanguineous arab parents have been reported (last curated february 2016)

•

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

•

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

•

en:toe-walking gait

•

en:trauma may accelerate symptoms

•

en:treatment with bh4 is effective

•

en:triggered by exercise, fasting, or other metabolic stresses

•

en:triggers are variable, even within a family

•

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

•

en:tumor suppressor genes

•

en:tumors are microsatellite stable

•

en:tumors may show spontaneous regression

•

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

•

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

•

en:two chinese sisters and one chinese woman have been described (last curated april 2014)

•

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

•

en:two consanguineous pakistan families have been described

•

en:two families have been reported (last curated february 2016)

•

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

•

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

•

en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout

•

en:two main phenotypes, metabolic and neurologic

•

en:two main phenotypes, severe and mild

•

en:two mother and child pairs have been reported (last curated july 2015)

•

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

•

en:two patients in one ashkenzai jewish family described (last curated june 2014)

•

en:two patients with a wws phenotype have been reported

•

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

•

en:two siblings of consanguineous turkish parents have been reported

•

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

•

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

•

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

•

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

•

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

•

en:type 2n shows autosomal recessive inheritance

•

en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia

•

en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))

•

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

•

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

•

en:uncommon disorder

•

en:unusual skill with jigsaw puzzle

•

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

•

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

•

en:urine turns dark on standing and alkalinization

•

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

•

en:usual onset under age 30 years

•

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

•

en:usually fatal in infancy

•

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

•

en:variable age at onset (birth to adolescence)

•

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

•

en:variable age at onset (infant to adult)

•

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

•

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

•

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

•

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

•

en:variable age at onset from childhood to adulthood

•

en:variable age at onset of symptoms, from second to fifth decade of life

•

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

•

en:variable age at onset, ranging from prelingual at birth to fifth decade

•

en:variable age of onset (childhood to adult)

•

en:variable age of onset (childhood to adulthood)

•

en:variable age of onset (infancy to 63 years)

•

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

•

en:variable clinical phenotype

•

en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals

•

en:variable expressivity

•

en:variable features present

•

en:variable frequency (daily to monthly)

•

en:variable frequency (weekly to yearly)

•

en:variable infectious phenotype

•

en:variable manifestation of features

•

en:variable penetrance of these features

•

en:variable phenotype within families

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:variable response to acetylcholinesterase inhibitors

•

en:variable response to vitamin b12 therapy

•

en:variable severity (mild symptoms to severe handicap)

•

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

•

en:variable severity of scaling and palmoplantar keratoderma

•

en:variable severity, even within families

•

en:variably expressivity

•

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

•

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

•

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

•

en:visual symptoms present by late childhood

•

en:waddling gate

•

en:wasting of the hands is the first and most prominent manifestation

•

en:wheelchair use by 10-30 years

•

en:wide phenotypic variability and severity

•

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

•

en:wide variability in severity of limb defects

•

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

•

en:worsening of symptoms during sleep

•

en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia

•

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

•

en:zinc deficiency in breastfed offspring resolves after weaning

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090941 • caches: c1=222 c2=3055 c3=1284

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