DYNC1H1 and proximal spinal muscular atrophy: Heterozygous DYNC1H1 mutations are associated with a spectrum of nervous system abnormalities, with, roughly, tail domain mutations causing a form of spinal muscular atrophy (SMA) or motor-sensory neuronopathies, motor domain mutations causing cortical malformation, and some mutations causing combined phenotypes (Lipka et al., 2013; Peeters et al., 2015; Scoto et al., 2015).