Ocular albinism with late-onset sensorineural deafness

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Name:
Ocular albinism with late-onset sensorineural deafness
Description:
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
ORPHAcode:
1000
Synonyms:
Ocular albinism with late-onset sensorineural hearing loss
XREF(s):
Analyte(s):
Created:
17 May 2022 - 02:46
Changed:
22 Jun 2023 - 16:14