Tietz syndrome (Q7801152)

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An monogenic disease 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.
  • albinism-deafness of Tietz
  • Tietz albinism-deafness syndrome
  • hypopigmentation/deafness of Tietz
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English
Tietz syndrome
An monogenic disease 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.
  • albinism-deafness of Tietz
  • Tietz albinism-deafness syndrome
  • hypopigmentation/deafness of Tietz

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