Human genes for Tietz syndrome
Tietz syndrome [DOID:0090002]
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Synonyms: Tietz syndrome, DOID:0090002, Tietz disease, Tietz disorder, Tietz syndromes ...