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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 33

Primary ciliary dyskinesia 33

Synonyms
CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD33, DRC4, GAS11, GAS8
    Summary: growth arrest specific 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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