Mucolipidosis II (I-cell disease).
D001706:Biopsy; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002478:Cells, Cultured; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000648:ultrastructure*; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis*; D008099:Liver / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D011859:Radiography; D012867:Skin / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000175:diagnosis; D014556:Urine / Q000201:enzymology