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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 20

Primary ciliary dyskinesia 20

Synonyms
CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS

Summary

CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCDC114, CILD20, ODAD1
    Summary: outer dynein arm docking complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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