| Term Name: | Muggenthaler-Chowdhury-Chioza syndrome |
|---|---|
| Synonyms: | MCCS |
| Definition: | A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21. |
| Ontology: | Human Disease [DOID:0070805] ( DOID:0070805 ) |