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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 38

Ciliary dyskinesia, primary, 38

Synonyms
CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C11orf70, CILD38, DNAAF17, FBB5, CFAP300
    Summary: cilia and flagella associated protein 300

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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