FRAXF syndrome
ORPHA: 100974
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with FRAXF syndrome, sourced from HPO and Orphanet clinical annotations.
Folate-dependent fragile site at Xq28Neurodevelopmental delayPhenotypic abnormality
Classification & Codes
Orphanet Code
ORPHA:100974FRAXF syndrome
| Orphanet | ORPHA:100974 |
| Treatments | 0 drug(s) |
| Symptoms on record | 3 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO