| Metadata | |
|---|---|
| ID | DOID:0111336 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/8664898, https://www.ncbi.nlm.nih.gov/pubmed/6859126 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702362004 |
| Subsets |
DO_rare_slim |
| Synonyms |
CDHS [EXACT] Sommer-Young-Wee-Frye syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |