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ocular albinism with congenital sensorineural deafness

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


Uniprot Description A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.
Mondo Term and Equivalent IDs
MONDO:0018138:  ocular albinism with congenital sensorineural deafness
Orphanet:352740: 
UMLS:C1863198: