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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 44

Ciliary dyskinesia, primary, 44

Synonyms
CILIARY DYSKINESIA, PRIMARY, 44, WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD44, NEK10
    Summary: NIMA related kinase 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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