intellectual disability, autosomal dominant 6
Findings
No curated finding names intellectual disability, autosomal dominant 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.
Definition from the Mondo Disease Ontology (MONDO:0013509), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Atypical behaviorHPOHP:0000708
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
Show the remaining 2
- Pes planusHPOHP:0001763
- 1 of 6 reported patients
- SeizureHPOHP:0001250
- 0 of 6 reported patients
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.
- GRIN2BHGNC:4586
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 6
- Also called
- autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2BGRIN2B autosomal dominant non-syndromic intellectual disabilityGRIN2B-related developmental delay, intellectual disability and autism spectrum disorderintellectual developmental disorder, autosomal dominant 6, with or without seizuresintellectual disability, autosomal dominant type 6mental retardation, autosomal dominant type 6MRD6