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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Clinical features include:

  • retinitis pigmentosa
  • cataracts
  • ichthyosis
  • ataxia
  • sensorineural deafness
  • dilated cardiomyopathy
  • peripheral neuropathy

Presentation is in the second decade or later with a senorimotor polyneuropathy with ataxia and visual and hearing problems.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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