Fragile X Syndrome
📋Overview
Fragile X Syndrome occurs due to a mutation in the FMR1 gene, which typically produces a protein necessary for normal brain development. This condition is recognized as the most common inherited form of intellectual disability and is frequently associated with autism spectrum disorder. It is caused by an expansion of the CGG triplet repeat in the FMR1 gene, leading to the silencing of the gene and a deficiency in the FMRP protein. Symptoms can include learning disabilities, social and behavioral challenges, and physical features such as large ears or a long face.
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Additional Resources
Medical codes (for reference)
UMLS CUI: C0016667Codes are provided for reference and interoperability. They are not a diagnosis.
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