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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

This condition is characterized by:

  • hepatomegaly but no splenomegaly
  • doll-like face
  • hypoglycaemia on fasting
  • hyperglycaemia after a meal
  • fits
  • low IQ

Other features include failure to thrive, lumbar lordosis, xanthomata (over buttocks and joints), adiposity.

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