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autosomal dominant disorders

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A list of some autosomal dominant disorders is presented below:

  • achondroplasia
  • antithrombin III deficiency
  • Ehlers-Danlos syndrome
  • Gilbert's disease
  • hereditary haemorrhagic telangiectasia
  • hereditary elliptosis, hereditary spherocytosis
  • Huntington's disease
  • idiopathic hypoparathyroidism
  • intestinal polyposis
  • marble bone disease
  • Marfan's syndrome
  • neurofibromatosis
  • polycystic kidney disease (adult)
  • protein C deficiency
  • osteogenesis imperfecta
  • Treacher Collins syndrome
  • tuberous sclerosis
  • Von Willebrand's disease

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