| 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 ) |