intellectual disability, autosomal recessive 6
Findings
No curated finding names intellectual disability, autosomal recessive 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012614), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atonic seizureHPOHP:0010819
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 8 reported patients
- Involuntary movementsHPOHP:0004305
- 1 of 2 reported patients
- Kinetic tremorHPOHP:0030186
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
- MyoclonusHPOHP:0001336
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.
- GRIK2HGNC:4580
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: intellectual disability, autosomal recessive 6
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2GRIK2 autosomal recessive non-syndromic intellectual disabilityintellectual developmental disorder, autosomal recessive 6intellectual disability, autosomal recessive type 6mental retardation, autosomal recessive type 6