Conditions / Syndrome
Vici syndrome
info · Syndrome
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.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Hypopigmentation of the skin
- Global developmental delay
- Agenesis of corpus callosum
- Hypopigmentation of hair
- Cataract
- Fundus hypopigmentation
- Hypotonia
- Microcephaly
- Developmental cataract
Also known as: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum