| Metadata | |
|---|---|
| ID | DOID:0110955 |
| Name | Waardenburg syndrome type 4C |
| Definition | A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/9462749 |
| Xrefs | |
| Synonyms |
Waardenburg syndrome type IVC [EXACT] Waardenburg syndrome with Hirschsprung disease type 4C [EXACT] WS4C [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |