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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

There are a few clinical presentations, depending on time of onset. Features include:

  • hepatosplenomegally
  • inguinal and umbilical herniae
  • coarse facial features - as in Hurler's syndrome
  • deafness
  • dysphagia
  • blindness
  • cherry red spot on the macula
  • dysostosis multiplex

The late onset form may present with dysarthria and ataxia.

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