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GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MRXS31
Location Xq28
Name mental retardation, syndromic 31
Corresponding gene MECP2
Other symbol(s) MRX79, MRX16
Main clinical features
  • mental retardation with progressive spasticity, delayed development (first steps at 2 to 5.5 years), facial hypotonia and sialorrhea, choreoathetotic movements, global bradyarrhythmia as indicated by electroencephalogram, and bilateral juvenile cataract; wheelchair and early death
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)
  • overlapping with MRX25, MRX28, MRX41, MRX3, MRX4