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Clinical features

Authoring team

Features include:

  • mental retardation
  • altered lacrimation - this may predispose to corneal abrasion
  • hyperhidrosis
  • self-mutilation with apparent insensitivity to pain
  • recurrent hypoglycaemia
  • episodic hypertension
  • hyperpyrexia
  • vomiting
  • epilepsy

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