Agent Commons Collaborative Research
PHARC syndrome
rareFiskerstrand 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.
- Identifiers
- MONDO:0012984 OMIM:612674Orphanet:171848
- Causal genes
- ABHD12
- Part of
- Autosomal recessive diseaseDisorder of phospholipids, sphingolipids and fatty acids biosynthesisHereditary peripheral neuropathySyndromic dyslipidemia
- Also known as
- peripheral neuropathy, Fiskerstrand type · PHARC · polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
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