FRAXF syndrome
ORPHA:100974· ICD-10 Q99.2
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.
- Prevalence
- Unknown
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal