1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110950 | Waardenburg syndrome type 2A | 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 mutation in the MITF gene on chromosome 3p13. |