Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Synonyms: PHARC syndrome | Peripheral neuropathy, Fiskerstrand type | Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
This rare neurologic disease 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome?
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