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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 48, without situs inversus

Ciliary dyskinesia, primary, 48, without situs inversus

Summary

Primary ciliary dyskinesia-48 without situs inversus (CILD48) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance. Affected individuals often develop chronic lung disease. Since the defect involves the radial spokes and central pairs of microtubules in motile cilia, situs abnormalities do not occur (summary by Cho et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CILD48, NM23-H5, NM23H5, RSPH23, NME5
    Summary: NME/NM23 family member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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