Heterozygous mutations in the MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system such as the Charcot-Marie-Tooth disease (CMT) and Spinal Muscular Atrophy-like phenotype disorder (SMA-like), the latter being phenotypically close to a recently described neurodevelopmental syndrome associated with developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) (Figure 2). The gene discussed is MORC2; the disease is proximal spinal muscular atrophy.