GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis type VI

Summary

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004). [from OMIM]

Available tests

55 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ASB, G4S, MPS6, ARSB
    Summary: arylsulfatase B

Clinical features

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