beta-glucuronidase deficiency in fibroblasts , leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl , now 13 years old , who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency , craniofacial dysmorphism , a short neck , protruding sternum , vertebral deformities and corneal clouding .
C0085132
beta-glucuronidase deficiency
C0026703
mucopolysaccharidosis