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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 36, X-linked

Ciliary dyskinesia, primary, 36, X-linked

Synonyms
CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS

Summary

CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER, DNAAF6
    Summary: dynein axonemal assembly factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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