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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, IIA 22

Osteogenesis imperfecta, IIA 22

Synonyms
Osteogenesis imperfecta, type 22; Osteogenesis imperfecta, type XXII

Summary

Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: OI22, CCDC134
    Summary: coiled-coil domain containing 134

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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