Definitions for xanthomatosis, cerebrotendinous

This page provides all possible meanings and translations of the word xanthomatosis, cerebrotendinous

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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