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ocular albinism with late-onset sensorineural deafness

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


GARD Rare
Mondo Description Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.
Mondo Term and Equivalent IDs
MONDO:0010390:  ocular albinism with late-onset sensorineural deafness
GARD:0000592: 
Orphanet:1000: 
SCTID:722054007: 
UMLS:C1845069: