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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, type 20

Osteogenesis imperfecta, type 20

Synonyms
OSTEOGENESIS IMPERFECTA, TYPE XX

Summary

Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BOCA, MESDC2, OI20, MESD
    Summary: mesoderm development LRP chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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