Disease-gene associations mined from literature

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