Term Name: Tietz syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome