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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, type 18

Osteogenesis imperfecta, type 18

Synonyms
OSTEOGENESIS IMPERFECTA, TYPE XVIII

Summary

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018). [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: C6orf37, FAM46A, OI18, XTP11, TENT5A
    Summary: terminal nucleotidyltransferase 5A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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