ES analyses identified that all 3 siblings were compound heterozygous for CFAP20 c.164 + 1G > A and c.257G > A:p.(Tyr86Cys) For all families described, no individuals have had signs or symptoms of PCD such as chronic or unusual respiratory symptoms, and unless otherwise specified there has been no history of renal disease. The gene discussed is CFAP20; the disease is primary ciliary dyskinesia.