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Vici syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060356
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
