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GENATLAS PHENOTYPE
last update : 19-10-2015
Symbol MRD8
Location 9q34.3
Name mental retardation, autosomal dominant 8
Corresponding gene GRIN1
Main clinical features
  • moderate to severe mental retardation, partial complex seizures, hypotonia, and normal brain MRI
  • nonsyndromic intellectual disability and epileptic encephalopathy
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
    Remark(s)