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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 12

Osteogenesis imperfecta type 12

Synonyms
OI, TYPE XII; Osteogenesis imperfecta, type XII; SP7-Related Osteogenesis Imperfecta

Summary

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010). [from OMIM]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OI11, OI12, OSX, osterix, SP7
    Summary: Sp7 transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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