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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Presentation is associated with the exocrine pancreatic insufficiency.

Other clinical features include

  • chronic or cyclical failure of haematopoeisis resulting in:
    • neutropaenia
    • pancytopaenia
    • isolated thrombocytopaenia
  • skeletal abnormalities
  • recurrent infections
  • growth retardation
  • abnormal liver function
  • dental abnormalities
  • developmental delay

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