lipomucopolysaccharidosis

mu·co·lip·i·do·sis I

[MIM*256550] 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

lipomucopolysaccharidosis

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

单词	lipomucopolysaccharidosis
释义	lipomucopolysaccharidosis mu·co·lip·i·do·sis I [MIM*256550] 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 lipomucopolysaccharidosis (1) Sialidosis type 2, see there. (2) Mucolipidosis, type 1, see there.
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