The functional outcome of this ubiquitous expression of CHD2 is evidenced by gene variants often presenting non-CNS phenotypes including, other than the morphological, spinal and craniofacial abnormalities already described, monoclonal B-lymphocytosis (MBL) and chronic lymphocytic leukaemia (CLL) [106]. Here, CHD2 is linked to B-cell chronic lymphocytic leukemia.