FRAXE intellectual disability
Findings
No curated finding names FRAXE intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
Definition from the Mondo Disease Ontology (MONDO:0010659), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
25 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
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- AgitationHPOHP:0000713
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
Show the remaining 13
- Prominent ear helixHPOHP:0009904
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
- Recurrent hand flappingHPOHP:0100023
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
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.
- AFF2HGNC:3776
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: FRAXE intellectual disability
- Also called
- intellectual developmental disorder, X-linked 109, X-linked recessiveintellectual disability associated with fragile site FRAXE