Human genes for Waardenburg syndrome type 2D
Waardenburg syndrome type 2D [DOID:0110952]
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 homozygous deletion of the SNAI2 gene on chromosome 8q11.
Synonyms: Waardenburg syndrome type 2D, DOID:0110952, WS2D, Waardenburg syndrome type IID, Waardenburg syndrome type IIDs