Cherry red spots and progressive myoclonus without dermentia: a distinct syndrome with neuronal storage.
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008062:Lipofuscin / Q000378:metabolism; D009207:Myoclonus / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis*; D013109:Sphingomyelins / Q000378:metabolism; D013577:Syndrome
D008062:Lipofuscin; D013109:Sphingomyelins