|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|MITF||microphthalmia-associated transcription factor|