- 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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"xanthomatosis, cerebrotendinous." Rhymes.net. STANDS4 LLC, 2015. Web. 9 Oct. 2015. <http://www.rhymes.net/rhyme/xanthomatosis, cerebrotendinous>.