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