Mucopolysaccharidosis type 9

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.

Also known as: MPS9, MPSIX, mucopolysaccharidosis type 9, mucopolysaccharidosis type IX, MPS 9, hyaluronidase deficiency, mucopolysaccharidosis IX, mucopolysaccharidosis, type 9

68 clinical trials for this condition and its sub-types.