GRIN-related complex neurodevelopmental disorder
Findings
No curated finding names GRIN-related complex neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved.
Definition from the Mondo Disease Ontology (MONDO:1060138), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: GRIN-related complex neurodevelopmental disorder
- Also called
- GRIN-related encephalopathyGRIN-related neurodevelopmental disorderGRINpathies