DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
ORPHA:494444· ICD-10 H90.3
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal