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GENATLAS PHENOTYPE
last update : 14-05-2024
Symbol IDASDB
Location 16q22.2
Name intellectual disability and autism spectrum disorder, with brachydactyly
Corresponding gene ZFHX3
Main clinical features
  • intellectual disability and autism spectrum disorder, recurrent facial features, relative short stature, brachydactyly, and, rarely, cleft palate
  • high and broad forehead, bulbous nasal tip, and low hanging columella, thin upper lip, hands and feet may be small and show brachydactyly (mostly of the distal phalanges
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)