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Summary Literature (0)
DOID:0111336 - craniofacial-deafness-hand syndrome


Disease Ontology 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 PAX3 on chromosome 2q36.1.

Synonyms: CDHS, Sommer-Young-Wee-Frye syndrome

Xenbase Genes : pax3


OMIM:
OMIM:122880 - CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)