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.
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lipomucopolysaccharidosis(1) Sialidosis type 2, see there.
(2) Mucolipidosis, type 1, see there.
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