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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-06-2018
Symbol MRD52
Location 1q22
Name mental retardation, autosomal dominant 52
Corresponding gene ASH1L
Main clinical features
  • severe intellectual disability, absent speech, and behavioral abnormalities
  • other features included hypotonia, cryptorchidism, pectus carinatum, and dysmorphic facial features, such as deep-set eyes, synophrys, small asymmetric ears, beak-shaped nose, high nasal bridge, and short philtrum
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease