A retrospective analysis of all published mutations revealed domain-specific genotype-phenotype correlations [i.e. mutations in the dimerization domain with reductions in lower limb strength in DYNC1H1-NMD (neuromuscular disorders) and motor domain with cerebral malformations in DYNC1H1-NDD (neurodevelopmental disorders) (Becker et al., 2020)]. The gene discussed is DYNC1H1; the disease is neurodevelopmental disorder.