Fragile X syndrome

• Article
• 2021-02-28

The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability. The NICHD supports and conducts research on the diagnosis, treatment, management, prevention and inheritance of Fragile X and its associated conditions, Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor / Ataxia Syndrome (FXTAS) . All three conditions are the result of changes in the same gene on the X chromosome.

Common name

• Fragile X syndrome or Fragile X

Medical or scientific names

• Martin-Bell syndrome

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