Mucolipidosis, probably a new variant with joint deformity and peripheral nerve dysfunction.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002349:Carpal Tunnel Syndrome / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities*; D008064:Lipidoses / Q000235:genetics*; D009431:Neural Conduction; D010024:Osteoporosis; D010375:Pedigree; D010525:Peripheral Nerves / Q000503:physiopathology*; D011581:Psychological Tests; D011859:Radiography; D013106:Sphingolipidoses / Q000175:diagnosis; D014556:Urine / Q000201:enzymology