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GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MRXS29
Location Xq25
Name mental retardation, syndromic 29
Other name(s)
  • mental retardation, X-linked 94
  • mental retardation, syndromic Wu type
  • Corresponding gene GRIA3
    Other symbol(s) MRX94, MRXSW
    Main clinical features
  • late-onset primary testicular failure, short stature, microcephaly, moderate learning difficulties, primary testicular failure, poormuscle bulk, muscle weakness, asthetic body habitus, and hyporeflexia, moderate mental retardation
  • Genetic determination sex linked
    Function/system disorder endocrinology
    sex-genitalia
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function with altered kinetic properties and associated with moderate cognitive impairment
    Remark(s) mutations in functional domains of GRIA3 produce kinetic changes in AMPA receptor function and a significantly reduced channel function is associated with moderate mental retardation and a distinct neurological phenotype