In one patient (Fig. 1C, Additional file 1: Table S1-22) presenting with triventricular hydrocephalus, a brain cyst, encephalocele, and an incomplete cerebellum, we identified a compound heterozygote variant in dynein axonemal heavy chain 2 (DNAH2), encoding a heavy chain subunit of the inner dynein arm-f (dynein f), a component of motile cilia [61]. The gene discussed is DNAH2; the disease is Encephalocele.