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Синдром кохлеосаккуларної дегенерації-катаракти

ORPHA:3233· ICD-10 H83.8· Cochleosaccular degeneration-cataract syndrome

Визначення(English summary)

Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.

Поширеність
<1 / 1 000 000
Вік початку
Adult