mucopolysaccharidosis 9 (hyaluronidase deficiency)
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Genetics
- associated with defects in HYAL1 gene
Clinical manifestations
- periarticular soft tissue masses
- mild short stature
- acetabular erosions
- absence of neurological or visceral involvement
- high hyaluronate concentration in serum
More general terms
Additional terms
- hyaluronidase-1; hyal-1; hyaluronoglucosaminidase-1; lung carcinoma protein 1; LuCa-1 (HYAL1, LUCA1)