Ocular albinism with late-onset sensorineural deafness
Name: |
Ocular albinism with late-onset sensorineural deafness
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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.
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ORPHAcode: |
1000
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Synonyms: |
Ocular albinism with late-onset sensorineural hearing loss
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XREF(s): | |
Analyte(s): | |
Created: |
17 May 2022 - 02:46
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Changed: |
22 Jun 2023 - 16:14
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