pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
polymicrogyria +
Polymicrogyria with Optic Nerve Hypoplasia
porencephaly +
Schizencephaly
Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes.