Синдром сенсоневральної втрати слуху-ранньої сивини-есенціального тремору
ORPHA:66633· ICD-10 H90.3· Sensorineural hearing loss-early graying-essential tremor syndrome
Визначення(English summary)
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adult