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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-09-2018
Symbol MRD59
Location 6q21
Name mental retardation, autosomal dominant 59
Corresponding gene WASF1
Main clinical features
  • severe ID with autistic features, seizures, and developmental delay
  • midfacial hypoplasia, limited speech with a few or single words; seizures, although these include a range of seizure types, including generalized and focal seizures
  • wide-based gait, poor balance, and hyperactivity of movements: musculoskeletal findings included joint hyperflexibility, ankle valgus, and pes planus
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease