FRAXF syndrome
MONDO:0015084Mondo
Findings
No curated finding names FRAXF syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
Definition from the Mondo Disease Ontology (MONDO:0015084), read 2026-09-29. CC BY 4.0.
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.
- Folate-dependent fragile site at Xq28HPOHP:0003564
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Occasional (5% to 29% of cases)
- Phenotypic abnormalityHPOHP:0000118
- Very rare (1% to 4% of cases)
Where it sits
- A kind of