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Tietz syndrome
Summary
- Synonym
-
- Tietz albinism-deafness syndrome
- albinism-deafness of Tietz
- hypopigmentation/deafness of Tietz
- Definition
- 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.
- Super Class
- autosomal dominant disease syndrome
