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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 52

Ciliary dyskinesia, primary, 52

Synonyms
CILIARY DYSKINESIA, PRIMARY, 52, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD52, DNAAF18, ODA16, WDR69, DAW1
    Summary: dynein assembly factor with WD repeats 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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