CCDC40 and primary ciliary dyskinesia: In the present study, we established the definite diagnosis of PCD in a considerable proportion of patients with inconclusive results from WES by TEM, thus providing important information on genotype–phenotype correlations regarding VUS in CCDC40, CCDC103, DNAH5, and DNAI1 as well as a likely pathogenic variant in the PCD candidate gene NME5.