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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.

- Last update: August 2008

  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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.