intellectual disability, autosomal recessive 45
Findings
No curated finding names intellectual disability, autosomal recessive 45 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 FBXO31 gene.
Definition from the Mondo Disease Ontology (MONDO:0014430), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Coarse facial featuresHPOHP:0000280
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Thick vermilion borderHPOHP:0012471
- 5 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 5 of 5 reported patients
- SynophrysHPOHP:0000664
- 4 of 5 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 3 of 5 reported patients
- Bulbous noseHPOHP:0000414
Show the remaining 7
- Flat faceHPOHP:0012368
- 1 of 5 reported patients
- Highly arched eyebrowHPOHP:0002553
- 1 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 5 reported patients
- Round faceHPOHP:0000311
- 1 of 5 reported patients
- Short chinHPOHP:0000331
- 1 of 5 reported patients
- Thick eyebrowHPOHP:0000574
- 1 of 5 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.
- FBXO31HGNC:16510
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 45
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31FBXO31 autosomal recessive non-syndromic intellectual disabilityintellectual disability, autosomal recessive type 45mental retardation, autosomal recessive type 45