Vici syndrome (DOID:0060356)
Alliance: disease page
Synonyms: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Alt IDs: OMIM:242840, MESH:C535566, NCI:C138174, ORDO:1493, UMLS_CUI:C1855772
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.