Although CMT is known as a disease associated with peripheral neuropathy, MORC2 mutations cause clinical symptoms such as severe axonal polyneuropathy, spinal muscular atrophy, cerebellar ataxia, diaphragmatic paralysis, craniofacial dysmorphism and nocturnal hypoventilation (Guillen Sacoto et al., 2020; Schottmann et al., 2016; Zanni et al., 2017). Here, MORC2 is linked to spinal muscular atrophy.