Diko : en:prevalence in slovenia is 1 in 43,000

en:prevalence in slovenia is 1 in 43,000

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Langue:anglais

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source:wiki

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umls:C1855881

Associations d'idées

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50+

algie articulaire

•

anomalie congénitale

•

anomalie du développement

•

arthralgie

•

difformité congénitale

•

douleur articulaire

•

douleur dans une articulation

•

déficience congénitale

•

déformation congénitale

•

en:(3) adult nonnephropathic (219750)

•

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

•

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

•

en:Stokes-Adams syndrome

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en:Stokes-Adams' syndrome

•

en:a milder form has also been reported

•

en:abnormal sensitivity to therapeutic radiation

•

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

•

en:absence seizures show onset between 3.5 and 4 years

•

en:adrenal insufficiency usually develops later (first decade)

•

en:adult onset

•

en:adult onset (20 to 50 years)

•

en:adult onset (wide range of age)

•

en:adult onset from second to seventh decade

•

en:adult onset has been reported

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

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

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:age at onset 14 to 44 years

•

en:age at onset 8 to 55 years (mean 40 years)

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:age of onset between 5 and 10 years of age

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:age of onset ranges from 1 to 47 years

•

en:age of onset usually 1 week to 2 years

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en:age of onset varies ranging from 3 weeks to 22 years

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en:age of onset/diagnosis 12-35 years

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

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en:all features are unilateral

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en:all reported mutations have occurred de novo

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en:allelic disorder to benign hereditary chorea (118700), which is less severe

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en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

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

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en:allelic disorder to potassium-aggravated myotonia (608390)

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en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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

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

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en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

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en:anemia is responsive to corticosteroid treatment

▶

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50+

Arthralgie

•

Douleur articulaire

•

Hyde (prurigo nodulaire de)

•

Hydramnios

•

Lester (signe de)

•

Létal

•

Maladie congénitale

•

Maladie opportuniste

•

Malformation

•

Malformation congénitale

•

Polyhydramnios

•

Rétinite pigmentaire

•

Stokes-Adams (syndrome de)

•

algie articulaire

•

anomalie congénitale

•

anomalie du développement

•

arthralgie

•

atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré

•

difformité congénitale

•

douleur articulaire

•

douleur dans une articulation

•

déficience congénitale

•

déformation congénitale

•

en:(3) adult nonnephropathic (219750)

•

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

•

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

•

en:Stokes-Adams syndrome

•

en:Stokes-Adams' syndrome

•

en:a milder form has also been reported

•

en:abnormal sensitivity to therapeutic radiation

•

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

•

en:absence seizures show onset between 3.5 and 4 years

•

en:adrenal insufficiency usually develops later (first decade)

•

en:adult onset

•

en:adult onset (20 to 50 years)

•

en:adult onset (wide range of age)

•

en:adult onset from second to seventh decade

•

en:adult onset has been reported

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

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

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:age at onset 14 to 44 years

•

en:age at onset 8 to 55 years (mean 40 years)

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:age of onset between 5 and 10 years of age

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:age of onset ranges from 1 to 47 years

•

en:age of onset usually 1 week to 2 years

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8038334 • caches: c1=538 c2=5386 c3=4335

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