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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 19

Primary ciliary dyskinesia 19

Synonyms
CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia19: LRRC6-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD19, LRRC6, LRTP, TSLRP, tilB, DNAAF11
    Summary: dynein axonemal assembly factor 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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