Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.
D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D001854:Bone Marrow Cells; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications; D008099:Liver / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D008266:Macula Lutea / Q000473:pathology*; D009207:Myoclonus / Q000378:metabolism / Q000473:pathology; D013036:Spasms, Infantile / Q000378:metabolism / Q000473:pathology