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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Acute features, noted from day 3 to day ten include:

  • lethargy
  • poor feeding
  • hypotonia,
  • opisthotonus
  • convulsions
  • high pitched cry, with or without fever

Intermediate features include:

  • hypotonia
  • developmental delay

Long term features, noted at 18 months, include:

  • athetoid cerebral palsy
  • high frequency hearing loss
  • impaired vertical gaze
  • mental retardation, which may be mild or absent
  • dental dysplasia

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