Figure 1.

Flowchart outlining the enrollment of participants. *Outer dynein arm (ODA) defect, ODA + inner dynein arm (IDA) defect, or IDA + microtubular disorganization defect. ^†Two pathogenic or likely pathogenic variants in a single primary ciliary dyskinesia (PCD)-causing gene. ^‡Of the 46 genetically unresolved cases, 39 were tested by a panel of 28 or more genes plus whole-exome sequencing (WES) followed by targeted analysis of the known PCD-related genes (3). In addition, four had WES alone, two had panel testing alone, and one had no DNA available for testing. TEM = transmission electron microscopy.