MORC2 and proximal spinal muscular atrophy: After this first report, clinicians re-examined sequencing data from patients with genetically unsolved neuropathies for mutations in MORC2 and identified a similar p.S87L mutation in two unrelated patients with infantile-onset SMA-like picture associated with generalized hypotonia, sensory loss, developmental delay, cataract, scoliosis, dysmorphic face (Hyun et al., 2016) or in one patient with scoliosis, cerebellar hypoplasia, and intellectual disability (Duan et al., 2021; Table 1).