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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 15

Primary ciliary dyskinesia 15

Synonyms
CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia15: CCDC40-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFAP172, CILD15, FAP172, CCDC40
    Summary: coiled-coil domain 40 molecular ruler complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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