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Очний альбінізм з пізньою сенсоневральною глухотою

ORPHA:1000· ICD-10 E70.3· Ocular albinism with late-onset sensorineural deafness

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
X-linked recessive
Вік початку
Adult