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

Orpha code: 171848OMIM code: 612674

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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