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

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

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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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.