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Vici syndrome

Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or, Absent corpus callosum cataract immunodeficiency), 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. To date about 50 cases have been reported.

[ "Dominance (genetics)", "Autophagy", "Immunodeficiency", "Cardiomyopathy", "Agenesis of the corpus callosum" ]
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