GRIN1-related complex neurodevelopmental disorder

Definition

A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria.

Also known as GRIN1-related developmental and epileptic encephalopathy, GRIN1-related neurodevelopmental disorder — per MONDO