Subsequent reports linked DYNC1H1 mutations to neuromuscular (NMD, e.g., axonal Charcot-Marie-Tooth disease type 20 (CMT20; MIM#614228) [3, 4]) and neurodevelopmental disorders (NDD), e.g., malformations of cortical development (MCD), autosomal dominant mental retardation 13 (MRD13; MIM#614563) [5], and hereditary spastic paraplegia. The gene discussed is DYNC1H1; the disease is Neurodevelopmental delay.