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Fragile X Syndrome - Medical Condition Information

Fragile X Syndrome

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📋Overview

Fragile X Syndrome is a genetic disorder caused by a mutation in the FMR1 gene on the X chromosome, leading to intellectual disability and developmental delays. It is the most common inherited cause of intellectual disability and a known genetic cause of autism spectrum disorder. The term 'Fragile X Syndrome' is the modern preferred name.

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Medical codes (for reference)

UMLS CUI: C0016667
ICD-10-CM
Q99.2
MeSH
D005600
SNOMED CT (US)
613003

Codes are provided for reference and interoperability. They are not a diagnosis.

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