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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 46

Ciliary dyskinesia, primary, 46

Summary

Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed (Edelbusch et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD46, FU, STK36
    Summary: serine/threonine kinase 36

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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