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Results 1 - 5 of 5 for refsum disease
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  1. Refsum disease 
    Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and ... signs and symptoms.The vision loss associated with Refsum disease is caused by an eye disorder called retinitis ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  2. PHYH gene 
    ... more than 90 percent of all cases of Refsum disease. About 30 mutations in this gene have been ... smell and causes the other specific features of Refsum disease. More About This Health Condition LN1 LNAP1 PAHX ...
    https://medlineplus.gov/genetics/gene/phyh - Genetics
  3. PEX7 gene 
    ... cause a small percentage of all cases of Refsum disease. The three mutations known to be responsible for ... acids and other substances effectively.In people with Refsum disease, a shortage of phytanoyl-CoA hydroxylase prevents peroxisomes ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  4. Retinitis pigmentosa 
    ... several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  5. Zellweger spectrum disorder 
    ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics