Pachygyria-intellectual disability-epilepsy syndrome
ORPHA:2798· ICD-10 G40.4
Definition
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood