As discussed above, in Participant S4796685, ES identified a heterozygous c.6763C>T (p.Arg2255Ter) nonsense variant in DNAH5 and subsequent CMA detected a 1 kb copy number loss affecting DNAH5, thus explaining the participant’s phenotype and establishing the molecular diagnosis of PCD, an autosomal recessive disorder. The gene discussed is DNAH5; the disease is primary ciliary dyskinesia.