Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D008297:Male; D009081:Mucolipidoses / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D009439:Neuraminidase / Q000172:deficiency*; D012160:Retina / Q000002:abnormalities*; D012794:Sialic Acids / Q000378:metabolism; D013577:Syndrome
D012794:Sialic Acids; D009439:Neuraminidase