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bn:00348331n
Noun Concept
NL
No term available
EN
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. Wikipedia
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IS A
zeldzame ziekte
leukoderma
syndroom
EN
autosomal recessive disease

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