Given the confusion and misdiagnosis engendered by current disease categories, Becker et al. [10] has recommended adopting a broader classification of (1) DYNC1H1 neuromuscular disorders (DYNC1H1-NMDs) involving only the peripheral nervous system and (2) DYNC1H1 neurodevelopmental disorders (DYNC1H1-NDDs), which is associated with central nervous system phenotypes. This evidence concerns the gene DYNC1H1 and neurodevelopmental disorder.