FRAXF syndrome

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FRAXF syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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FRAXF syndrome?

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Clinical Trials

For a list of clinical trials in this disease area, please click here.