- 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.
Find a translation for xanthomatosis, cerebrotendinous in other languages:
Select another language:
Discuss this xanthomatosis, cerebrotendinous rhyme with the community:
Use the citation below to add this rhymes to your bibliography:
"xanthomatosis, cerebrotendinous." Rhymes.net. STANDS4 LLC, 2016. Web. 5 Dec. 2016. <http://www.rhymes.net/rhyme/xanthomatosis%2C%20cerebrotendinous>.