Tietz syndrome (Q7801152)
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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
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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 |
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Wikipedia(4 entries)
- dewiki Tietz-Syndrom
- enwiki Tietz syndrome
- eswiki Síndrome de Tietz
- plwiki Zespół Tietza