Hyaluronidase deficiency
Medical condition / From Wikipedia, the free encyclopedia
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Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.[1]:ā544ā
Quick Facts Other names, Specialty ...
Hyaluronidase deficiency | |
---|---|
Other names | Mucopolysaccharidosis type IX |
Specialty | Dermatology |
Symptoms | short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain |
Usual onset | Childhood |
Causes | Deficiency of the enzyme hyaluronidase |
Frequency | less than 1 in 1,000,000 |
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