Pachygyria-intellectual disability-epilepsy syndrome
Pachygyria-intellectual disability-epilepsy syndrome
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.
Also known as Kuzniecky syndrome — per MONDO