Term Name:	craniofacial-deafness-hand syndrome
Synonyms:	CDHS, Sommer-Young-Wee-Frye syndrome
Definition:	A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.
Ontology:	Human Disease [DOID:0111336]   ( DOID:0111336 )