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GENATLAS PHENOTYPE
last update : 17-11-2021
Symbol MRD1
Location 2q23.1
Name mental retardation, autosomal dominant 1
Corresponding gene MBD5
Main clinical features
  • severe mental retardation, but no facial dysmorphic features with retarded motor development
  • minimal speech, infantile hypotonia, seizures, microcephaly, short stature
  • also seizure type generalized tonic-clonic, focal, atypical absence, tonic, drop attacks, and myoclonic seizures occurred frequently
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)