DISEASES

Disease-gene associations mined from literature

Human genes for Vici syndrome

Vici syndrome [DOID:0060356]

An autosomal recessive disease 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 ...