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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 23

Primary ciliary dyskinesia 23

Synonyms
CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by Hjeij et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARMC4, CILD23, gudu, ODAD2
    Summary: outer dynein arm docking complex subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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