Disease

craniofacial-deafness-hand 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.
Synonyms
  • CDHS
  • Sommer-Young-Wee-Frye syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models