| Metadata | |
|---|---|
| ID | DOID:0110956 |
| Name | Waardenburg syndrome type 2E |
| 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 heterozygous mutations in the SOX10 gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/10441344, https://www.ncbi.nlm.nih.gov/pubmed/20127975 |
| Xrefs | |
| Synonyms |
hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation [EXACT] Waardenburg syndrome type 2E with or without neurologic involvement [EXACT] Waardenburg syndrome type IIE [EXACT] WS2E [EXACT] WS2E with or without neurological involvement [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |