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Clinical features

Authoring team

Clinical features are as follows:

  • developmental delay is first noticed before age 5
  • hyperactivity and irritability may be noted earlier
  • deterioration at around the age of ten, with the development of:
    • focal neurological signs
    • unsteady gait and inability to walk
    • mental retardation
    • stiff joints
    • herniae
    • hepatosplenomegally

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