Term Name: | Vici syndrome |
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Synonyms: | immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum |
Definition: | A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. |
Ontology: | Human Disease [DOID:0060356] ( DOID:0060356 ) |