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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, type 21

Osteogenesis imperfecta, type 21

Synonyms
OSTEOGENESIS IMPERFECTA, TYPE XXI

Summary

Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood (van Dijk et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ELP-1, ELP1, ERD2.2, OI21, KDELR2
    Summary: KDEL endoplasmic reticulum protein retention receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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