U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 18

Summary

Primary ciliary dyskinesia-18 (CILD18) is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012). [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CILD18, HEATR2, DNAAF5
    Summary: dynein axonemal assembly factor 5

Clinical features

Help

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.