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Fragile X syndrome

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Fragile X syndrome
Classification and external resources

Location of FMR1 gene
ICD-10 Q99.2
ICD-9 759.83
OMIM 300624
DiseasesDB 4973
MedlinePlus 001668
eMedicine ped/800
MeSH D005600

Fragile X syndrome (FXS) is a genetic syndrome that causes a range of intellectual disabilities as well as unusual physical and behavioural characteristics. It is one of the most common causes of autism and mental retardation among boys.[1][2]


  1. McLennan, Y; Polussa J, Tassone F, Hagerman R. (2011). "Fragile X Syndrome". Current Genomics 12 (3): 216–224. doi:10.2174/138920211795677886 . PMC 3137006 . PMID 22043169 .
  2. Budimirovic, DB; Kaufmann WE. (2011). "What can we learn about autism from studying fragile X syndrome?". Dev Neurosci 33 (5): 379–94. doi:10.1159/000330213 . PMC 3254037 . PMID 21893949 . Retrieved 26 Jan 2012.