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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. Maybe you were looking for one of these terms?
x-rays, x., x.'s, x.s, xanax, xaver, xavier, xaviera, xebec, xena
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