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Genetic and Rare Diseases Information Center (GARD)

Refsum disease

Other Names for Refsum disease

  • Disorder of cornification 11 (phytanic acid type)
  • Hereditary sensory and motor neuropathy type 4
  • HMSN 4
  • Heredopathia atactica polyneuritiformis
  • Doc 11 (phytanic acid type)
  • Hypertrophic neuropathy of Refsum
  • Phytanic acid oxidase deficiency
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