Overview
FRAXF syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Folate-dependent fragile site at Xq28
Very frequent (80-99%)HP:0003564
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Phenotypic abnormality
Very rare (1-4%)HP:0000118
Related Conditions
Quick Facts
- SNOMED CT
- 716708005
- UMLS CUI
- C4274329
- Fully Specified Name
- FRAXF syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 3
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.