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mucolipidosis I


Definition: mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency; autosomal recessive inheritance caused by mutation in the neuraminidase gene (NEU) on 6p.

Synonym(s): lipomucopolysaccharidosis

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.