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2630 pages added, reviewed or updated during the last month (last updated: 17/4/2021)

2630 pages added, reviewed or updated during the last month (last updated: 17/4/2021)


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The main features are:

  • progressive dysostosis affecting spine and limb joints
  • hepatosplenomegaly
  • cranial dysmorphisms
  • cardiac involvement
  • corneal clouding

Last reviewed 01/2018

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