The Coffin syndrome.
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability; D008247:Lysosomes / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D011859:Radiography; D012730:Sex Chromosomes; D013577:Syndrome; D014556:Urine / Q000201:enzymology