| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. (Orphanet Rare Disease Ontology, Orphanet_42665) |
| External Link | http://www.omim.org/entry/103500 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| MITF | microphthalmia-associated transcription factor |
