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

Orpha code: 171848OMIM code: 612674

Definition

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.

Disease data
Classification

Disease

Synonyms
PHARC syndrome
Neuropatia obwodowa, typ Fiskerstranda
Zespół PHARC
Peripheral neuropathy, Fiskerstrand type
Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
ORPHA code
171848
OMIM code
612674
ICD10 code
G60.1
ICD11 code
-

No additional description.

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