Pathogenic variants in the EIF2B5 gene, which encodes the epsilon subunit of the eukaryotic translation initiation factor 2B (eIF2B), are associated with autosomal recessive leukodystrophy with VWM, which is frequently—but not invariably—accompanied by ovarian disorder in females (Ibitoye et al., 2016). The gene discussed is EIF2B5; the disease is leukoencephalopathy with vanishing white matter.