GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 53

Ciliary dyskinesia, primary, 53

Summary

Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD53, EFCAB1, ODAD5, CLXN
    Summary: calaxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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