Isolated Joubert syndrome
ORPHA:475· ICD-10 Q04.3
Definition
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal