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GTR Home > Conditions/Phenotypes > PHARC syndrome

PHARC syndrome

Synonyms
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, hABHD12, ABHD12
    Summary: abhydrolase domain containing 12, lysophospholipase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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