Reviewing previous literature, patients carrying MORC2 mutations showed a wide and complex phenotypic spectrum: (i) late onset or early onset axonal CMT [2, 8, 10, 13, 15]; (ii) congenital or early onset SMA-like syndrome [2, 9, 13, 16]; (iii) axonal neuropathy plus CNS symptoms (pyramidal signs, seizures, leukomalacia, mental retardation, spinal cord atrophy, tremor, hearing loss, et al.)[7, 9, 15]; (iiii) axonal neuropathy plus multisystemic disorders (cerebellar atrophy, diaphragmatic paralysis, nocturnal hypoventilation, scoliosis, dysmorphic face, et al.)[12, 14]. Here, MORC2 is linked to axonal neuropathy.