MORC2 and Global developmental delay: Besides the p.S87L mutation, patients with similar SMA-like picture were rapidly identified in two unrelated families with a de novo p.T424R (c.1271C > G) MORC2 mutation associated with cerebellar atrophy, diaphragmatic paralysis, developmental delay (Schottmann et al., 2016; Zanni et al., 2017).