Term Name: | Tietz syndrome |
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Synonyms: | albinism-deafness of Tietz, hypopigmentation/deafness of Tietz, Tietz albinism-deafness syndrome |
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. |
Ontology: | Human Disease [DOID:0090002] ( DOID:0090002 ) |