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FRAXE intellectual disability

Orpha number ORPHA100973
Synonym(s) Intellectual disability associated with fragile site FRAXE
Prevalence 1-9 / 1 000 000
Inheritance X-linked recessive
Age of onset -
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR with an estimated prevalence in the general population of between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28).


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Detailed information

Guidance for genetic testing
  • EN (2011,pdf)
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