Learn More About Fragile X Syndrome and Premutation-associated Disorders
Discover how mutations in the fragile X gene impact a broad range of clinical disorders and treatment decisions.
Did you know…
- A full mutation of the fragile X gene causes fragile X syndrome and is associated with autism spectrum disorder, language and speech delay, seizures, and intellectual disability.
- Prospective parents with a small mutation (premutation) in the fragile X gene may have a silent mutation and not have any symptoms but still may be at risk of having a child with fragile X syndrome.
- In older adults, a small mutation (premutation) in the fragile X gene can cause difficulty with balance and walking (ataxia), cognitive decline, tremors and Parkinsonism-like symptoms.
- In women, a small mutation (premutation) in the fragile X gene can cause infertility, early menopause, and fragile X-associated primary ovarian insufficiency.
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