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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Synonyms
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1

Summary

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. [from MONDO]

Available tests

39 tests are in the database for this condition.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6, B3GALT6
    Summary: beta-1,3-galactosyltransferase 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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