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FRAXF syndrome
Disease 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.
ORPHA:100974
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: -
- Age of onset: -
- ICD-10: Q99.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown.
Etiology
The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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