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GTR Home > Conditions/Phenotypes > Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Kimberley type

Summary

Kimberley-type spondyloepiphyseal dysplasia (SEDK) is a mild autosomal dominant SED with a phenotype of short stature, stocky build, and early-onset osteoarthritis of the weight-bearing joints (summary by Gleghorn et al., 2005). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD, ACAN
    Summary: aggrecan

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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