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GENATLAS PHENOTYPE
last update : 28-02-2017
Symbol MRT58
Location 18q12.2
Name mental retardation, autosomal recessive 58
Corresponding gene ELP2
Main clinical features
  • nonsyndromic mental retardation
  • global developmental delay since infancy and poor head control
  • behavioral problems, including aggressiveness, impulsivity, and self-injury
  • neurologic examination showed truncal hypotonia, lower limb spasticity with hyperreflexia, choreoathetosis, and stereotypical movements
  • brain MRI was normal
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)