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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27-06-2009
Symbol FRAXE
Location Xq28
HGNC id 3949
Name mental retardation, associated with fragile site
Corresponding gene AFF2 , FMR3
Other symbol(s) FMR2, FRAXE, MRX2
Main clinical features
  • mild to borderline mental retardation, facial dysmorphy, attention deficit, autistic-like behavior
  • bilateral epicanthal folds, speech delay, mild mental retardation and minor behavioral traits
    • Genetic determination sex linked
    Prevalence 1 in 23400 males
    Function/system disorder mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   abnormal protein/loss of function correlated with an FRAXE expansion, triplet GCC repeat amplification (>200 copies)
    Remark(s)