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GTR Home > Conditions/Phenotypes > PHARC syndrome


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.

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


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