Ocular albinism with late-onset sensorineural deafness

Orpha code: 1000OMIM code: 300650

Definition

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.

Disease data
Classification

Disease

Synonyms
Ocular albinism with late-onset sensorineural hearing loss
ORPHA code
1000
OMIM code
300650
ICD10 code
E70.3
ICD11 code
LD2H.Y

No additional description.

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