Term Name: Vici syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome