intellectual disability, autosomal recessive 2
Findings
No curated finding names intellectual disability, autosomal recessive 2 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 CRBN gene.
Definition from the Mondo Disease Ontology (MONDO:0011828), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Mild intellectual disabilityHPOHP:0001256
- 10 of 10 reported patients
- Self-injurious behaviorHPOHP:0100716
- 5 of 5 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 5 reported patients
- Absent speechHPO
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.
- CRBNHGNC:30185
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 2
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in CRBNCRBN autosomal recessive non-syndromic intellectual disabilityintellectual disability, autosomal recessive type 2mental retardation, autosomal recessive type 2