Le Diko - en:relatively mild phenotype

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Le Diko - en:relatively mild phenotype

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en:relatively mild phenotype

Nom

Informations lexicales

Langue:anglais

Associations d'idées

50+

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

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

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en:2-3% due to imprinting defects

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

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en:3 reported cases, 1 pedigree of affected sibs, neither parent affected

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en:40% patients have associated abnormalities

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en:46,xx carriers are unaffected

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en:7 unrelated patients have been reported

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

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en:87% patients are female

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en:94% develop hypertension at 18 years of age or less

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en:98% of finnish cases due to one mutation

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en:a second family had mild intellectual disability

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

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

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en:a wnt3 mutation has been identified in 1 affected family

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

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en:about 50% of patients become wheelchair-bound at an average age of 37 years

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en:about half of patients 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:adams-stokes syndrome

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en:adrenal insufficiency usually develops later (first decade)

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en:adult onset (before 50 years)

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en:adult onset (mid-forties)

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en:adult onset (range 15 to 53 years)

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en:adult onset (range 19 to 48 years)

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en:adult onset (range 28 to 55 years)

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en:adult onset (thirties to forties)

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en:adult onset - 100-1,000 repeats

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en:adult onset, usually 30's to 40's, but up to early 60's

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en:adult-onset in third to fourth decade

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

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en:affected males have normal pubertal development and are fertile

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en:affected males have onset of poor vision before the age of 2 years

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en:affects up to 10% of the population

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en:age at diagnosis 2-4 months

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en:age at onset 15 to 33 years

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en:age at onset can range from infancy to childhood

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en:age at onset in females ranges from childhood to the fourth decade

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

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

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

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en:age of onset third decade

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en:age of onset usually 1 week to 2 years

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en:age of onset/diagnosis 12-35 years

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

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en:aggravated by physical activity

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

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en:all cases have been sporadic

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090957 • caches: c1=6 c2=52 c3=1

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