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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