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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

5 tests are in the database for this condition.

Clinical tests (5 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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