Синдром Ушера (Ашера)
ORPHA:886· ICD-10 H35.5· Usher syndrome
Визначення(English summary)
A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal