intellectual disability, autosomal recessive 3
Findings
No curated finding names intellectual disability, autosomal recessive 3 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 CC2D1A gene.
Definition from the Mondo Disease Ontology (MONDO:0012037), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Delayed speech and language developmentHPOHP:0000750
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Incomprehensible speechHPOHP:0002546
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 20 of 20 reported patients
- Short attention spanHPOHP:0000736
- 1 of 1 reported patient
- Progressive microcephalyHPO
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.
- CC2D1AHGNC:30237
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal recessive 3
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1ACC2D1A autosomal recessive non-syndromic intellectual disabilityintellectual disability, autosomal recessive type 3mental retardation, autosomal recessive 3mental retardation, autosomal recessive type 3MRT3