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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1868187

Associations d'idées

[F]

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50+

algie articulaire

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anomalie congénitale

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anomalie du développement

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arthralgie

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difformité congénitale

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douleur articulaire

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douleur dans une articulation

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déficience congénitale

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déformation congénitale

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en:(3) adult nonnephropathic (219750)

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

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

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en:Stokes-Adams syndrome

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en:a milder form has also been reported

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en:abnormal sensitivity to therapeutic radiation

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

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en:absence seizures show onset between 3.5 and 4 years

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en:adrenal insufficiency usually develops later (first decade)

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en:adult onset

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en:adult onset (20 to 50 years)

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en:adult onset (wide range of age)

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en:adult onset from second to seventh decade

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en:adult onset has been reported

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

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

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en:affected individuals have a relatively mild ichthyosis phenotype

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

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

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en:age at onset 14 to 44 years

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

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

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

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

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en:age of onset ranges from 1 to 47 years

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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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en:aortic dissection may occur in second decade of life

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50+

Arthralgie

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Douleur articulaire

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Hyde (prurigo nodulaire de)

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Hydramnios

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Lester (signe de)

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Létal

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Maladie congénitale

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Maladie opportuniste

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Malformation

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Malformation congénitale

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Polyhydramnios

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Rétinite pigmentaire

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