pachygyria-intellectual disability-epilepsy syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005071
nervous system disorder
is_a
Kuzniecky syndrome
exact
pachygyria with mental retardation and seizures
related
pachygyria with mental retardation, seizures, and arachnoid cysts
related
pachygyria, intellectual disability and epilepsy
related
pachygyria, mental retardation and epilepsy
related