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Mucopolysaccharidosis type 9

rare

An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.

Identifiers
MONDO:0011093 OMIM:601492Orphanet:67041
Causal genes
HYAL1
Part of
Bone disorderMucopolysaccharidosis
Also known as
MPS9 · MPSIX · mucopolysaccharidosis type IX · mucopolysaccharidosis, type IX

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