Human genes for Vici syndrome
Vici syndrome [DOID:0060356]
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.
Synonyms: Vici syndrome, DOID:0060356, Vici disease, Vici disorder, Vici syndromes ...