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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-10-2015
Symbol MRD30
Location 10p15.3
Name mental retardation, autosomal dominant 30
Corresponding gene ZMYND11
Main clinical features
  • severe syndromic intellectual disability
  • global developmental delay, speech delay, social difficulties, behavioral problems, and dysmorphic facial features, including hypertelorism, ptosis, and a wide mouth
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease