Повязаний з DIAPH1 синдром сенсоневральної втрати слуху - тромбоцитопенії
ORPHA:494444· ICD-10 H90.3· DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Визначення(English summary)
A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood, Infancy, Neonatal