Developmental malformations-deafness-dystonia syndrome
ORPHA:79107· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of sensorineural hearing loss and a delayed-onset (usually generalized, but may be partial) dystonia syndrome.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Infancy