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GRIN1-related complex neurodevelopmental disorder

MONDO:1060123Mondo

Findings

No curated finding names GRIN1-related complex neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:1060123), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

GRIN1HGNC:4584
- Strong · PanelApp Australia · Autosomal recessive · 2025

Where it sits

A kind of: GRIN-related complex neurodevelopmental disorder
Narrower terms (3): 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

Other names

2 names

Resolves to: GRIN1-related complex neurodevelopmental disorder

Also called: GRIN1-related developmental and epileptic encephalopathyGRIN1-related neurodevelopmental disorder