GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 16

Primary ciliary dyskinesia 16

Synonyms
CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor 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.

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Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14orf168, CILD16, LC1, DNAL1
    Summary: dynein axonemal light chain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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