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.
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neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
MONDO:0013655
developmental and epileptic encephalopathy, 46
MONDO:0014947
developmental and epileptic encephalopathy 101
MONDO:0030727
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
MONDO:0060629
GRIN2B-related complex neurodevelopmental disorder
MONDO:0700350
GRIN2A-related complex neurodevelopmental disorder
MONDO:1060139