| Metadata | |
|---|---|
| ID | DOID:0110951 |
| Name | Waardenburg syndrome type 2C |
| Definition | A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. https://www.ncbi.nlm.nih.gov/pubmed/11810298, https://www.ncbi.nlm.nih.gov/pubmed/20127975 |
| Xrefs | |
| Synonyms |
Waardenburg syndrome type IIC [EXACT] WS2C [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |