Mutations in the EIF2B1-5 genes (OMIM 606686, 606454, 606273, 606687, 603945) encoding the subunits of the ubiquitously expressed eukaryotic initiation factor 2B (eIF2B) have been reported in a group of clinically heterogeneous leukodystrophies termed eIF2B-related disorders [1], [2], [3], [4]. The gene discussed is EIF2B1; the disease is leukodystrophy.