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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 10

Primary ciliary dyskinesia 10

Synonyms
CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia-10 (CILD10) is characterized by recurrent respiratory tract infections, sinusitis, otitis media, and bronchiectasis. Situs inversus may be present. Infertility in affected males results from immotile sperm (Omran et al., 2008, Sun et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14orf104, CILD10, KTU, PF13, DNAAF2
    Summary: dynein axonemal assembly factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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