Aicardi syndrome
ORPHA:50· ICD-10 Q04.0
Definition
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal