Studies of CH have led to the identification of several pathogenic human genes (Tully and Dobyns 2014; McKnight et al. 2021), including genes of the BAF complex: de novo and transmitted SMARCC1 mutations were identified in CH patients with stenosis of the aqueduct (Furey et al. 2018; Jin et al. 2020;). The gene discussed is SMARCC1; the disease is cyclic hematopoiesis.