(Q7801152)

English

Tietz syndrome

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
  • TIETZ SYNDROME
  • Hypopigmentation-deafness syndrome

Statements

Identifiers

0 references
0 references
 
edit
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit