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Autosomal recessive disorders

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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A list of some diseases that are associated with autosomal recessive inheritance is presented below:

  • oculocutaneous albinism
  • alkaptonuria
  • Bartter's syndrome
  • cystic fibrosis
  • endemic goitrous cretinism
  • familial amaurotic idiocy
  • galactosaemia
  • Gaucher's disease
  • glycogen storage disease
  • phenylketonuria
  • Wilson's disease
  • xeroderma pigmentosa

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