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 )

Relationships
is a type of: autosomal recessive disease syndrome