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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 35

Primary ciliary dyskinesia 35

Synonyms
CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TTC25, ODAD4
    Summary: outer dynein arm docking complex subunit 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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