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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 50

Ciliary dyskinesia, primary, 50

Summary

Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022). For a general phenotypic description and 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: CILD50, DNAH7
    Summary: dynein axonemal heavy chain 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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