Gm2-gangliosidosis with total hexosaminidase deficiency.
D001344:Autopsy; D001921:Brain / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002462:Cell Membrane / Q000378:metabolism; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D003593:Cytoplasm / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005725:Ganglia, Autonomic / Q000473:pathology; D005732:Gangliosides / Q000378:metabolism*; D005959:Glucosidases / Q000378:metabolism*; D006023:Glycoproteins / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism; D006595:Hexosamines / Q000378:metabolism; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008064:Lipidoses / Q000201:enzymology / Q000473:pathology; D008099:Liver / Q000378:metabolism; D013116:Spinal Cord / Q000473:pathology; D013154:Spleen / Q000378:metabolism
D005732:Gangliosides; D006023:Glycoproteins; D006025:Glycosaminoglycans; D006595:Hexosamines; D005959:Glucosidases