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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 24

Primary ciliary dyskinesia 24

Synonyms
CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CT79, RSP44, RSPH10A, TSA2, TSGA2, RSPH1
    Summary: radial spoke head component 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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