intellectual disability, autosomal dominant 10
Findings
No curated finding names intellectual disability, autosomal dominant 10 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 CACNG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013657), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
3 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.
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Brain imaging abnormalityHPOHP:0410263
- 0 of 1 reported patient
- SeizureHPOHP:0001250
- 0 of 1 reported patient
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.
- CACNG2HGNC:1406
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 10
- Also called
- autosomal dominant intellectual disability 10autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2CACNG2 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 10mental retardation, autosomal dominant type 10MRD10