Waardenburg syndrome type 2A (DOID:0110950)
Alliance: disease page
Synonyms: Waardenburg syndrome type IIA; WS2A
Alt IDs: OMIM:193510
Definition: A Waardenburg's 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.