BabelNet

bn:00348331n

Noun Concept

Categories: Rare diseases, Syndromes, Genetic disorders with OMIM but no gene, Congenital disorders, Autosomal recessive disorders

Vici syndrome Absent corpus callosum-cataract-immunodeficiency syndrome Absent corpus callosum cataract immunodeficiency Corpus callosum agenesis-cataract-immunodeficiency syndrome Dionisi-Vici-Sabetta-Gambarara syndrome

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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Autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3. Wikidata

IS A

rare disease

leukoderma

syndrome

autosomal recessive disease

Wikipedia

Vici syndrome

Wikidata

Vici syndrome

Wikipedia Redirections

Immunodeficiency with cleft lip, cataract, hypopigmentation and absent corpus callosum, Immunodeficiency with cleft palate, cataract, hypopigmentation and absent corpus callosum

Wikidata Alias

Absent corpus callosum-cataract-immunodeficiency syndrome, Absent corpus callosum cataract immunodeficiency, Corpus callosum agenesis-cataract-immunodeficiency syndrome, Dionisi-Vici-Sabetta-Gambarara syndrome, Dionisi Vici Sabetta Gambarara syndrome, immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum, Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, VICI SYNDROME, VICI SYNDROME; VICIS, VICIS