Orphanet: Perifere neuropathie Fiskerstrand type

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Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Disease definition

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.


Classification level: Disorder
  • Synonym(s):
    • PHARC syndrome
    • Peripheral neuropathy, Fiskerstrand type
    • Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.1
  • OMIM: 612674
  • UMLS: C2675204
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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