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GENATLAS PHENOTYPE
last update : 19-06-2019
Symbol MRD60
Location 3q27.1
Name mental retardation autosomal dominant 60
Other name(s) Intellectual developmental disorder 60 with seizures
Corresponding gene AP2M1
Main clinical features
  • global developmental delay apparent in the first six months of life and seizure onset between 21 months and 4 years; cases with autism spectrum disorder and with epileptic encephalopathy, and gait ataxia
  • global developmental delay, mildly delayed walking between 2 and 4 years of age, and impaired intellectual development with poor speech acquisition
  • features of epilepsy with myoclonic-atonic seizures or Doose syndrome
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) . p.Arg170Trp AP2M1 variant not only affects the function of the mu-subunit, but also globally interferes with the thermodynamic stability of the AP-2 complex and, thereby, with the recognition of cargo membrane proteins (PMID: 31104773))