| MUCOPOLYSACCHARIDOSIS IX | |
| MPS9; HYALURONIDASE DEFICIENCY | |
|
601492
OMIM = Online Mendelian Inheritance of Men | |
|
67041 | |
| Hyaluronidase-1 | |
| 3.2.1.35 | |
| rare autosomal recessive mutation in the HYAL1 gene | |
| Laboratory findings | Glycosaminoglycans, total inc (urine) Hyaluronan inc (urine) |
| Symptoms | dysmorphism hip dysplasia, hip dyslocation infections (severe or recurrent) joint effusions multiple periarticular soft-tissue masses onset, childhood scoliosis short stature |