Olivopontocerebellar atrophy-deafness syndrome
ORPHA:2732· ICD-10 Q04.8
Definition
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal