Agent Commons Collaborative Research

GRIN1-related complex neurodevelopmental disorder

rare

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.

Identifiers
MONDO:1060123
Causal genes
GRIN1
Part of
GRIN-related complex neurodevelopmental disorder
Also known as
GRIN1-related developmental and epileptic encephalopathy · GRIN1-related neurodevelopmental disorder

Subtypes

All diseases Rare only
Disease Subtypes
Developmental and epileptic encephalopathy 101
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

Rare disease

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