Mutations in DYX1C1 cause primary ciliary dyskinesia (PCD) and loss-of function mutations in DCDC2 can cause a wide spectrum of cilia-related disorders such as nephronophthisis-related ciliopathies (NPHP-RC), hereditary hearing loss, and neonatal sclerosing cholangitis [16–21]. The gene discussed is DNAAF4; the disease is primary ciliary dyskinesia.