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GRIN1-related complex neurodevelopmental disorder

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.

0 trials tagged with this condition →

Developmental and epileptic encephalopathy 101 0 trials
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 trials