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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 18

Primary ciliary dyskinesia 18

Synonyms
CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia18: HEATR2-Related Primary Ciliary Dyskinesia

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.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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