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Waardenburg syndrome type 2A

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Waardenburg syndrome Type 2 caused by mutations in the MITF gene.
Uniprot Description WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Mondo Term and Equivalent IDs
MONDO:0008671:  Waardenburg syndrome type 2A
GARD:0005521: 
MESH:C536464: 
NCIT:C75011: