PHARC syndrome

MONDO:0012984

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.

Also known as: PHARC syndrome, peripheral neuropathy, Fiskerstrand type, PHARC, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

6 clinical trials for this condition and its sub-types, 0 tagged with PHARC syndrome itself.

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↑ Autosomal recessive disease (994) ↑ Hereditary peripheral neuropathy (478) ↑ Syndromic dyslipidemia (73) ↑ Disorder of phospholipids, sphingolipids and fatty acids biosynthesis (15)

Including sub-types (6) Tagged with PHARC syndrome (0)

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