Definitions for xanthomatosis, cerebrotendinous

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U.S. National Library of Medicine

  1. Xanthomatosis, Cerebrotendinous

    An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

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