Search Ontology:
Human Disease

craniofacial-deafness-hand syndrome

Term ID
DOID:0111336
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. (2)
References
Ontology
Human Disease   ( DOID:0111336 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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