In this study, we identified and characterized 10 newly diagnosed and two previously reported individuals carrying the homozygous missense variant NM_003680.3:c.1099C > T, p.(Arg367Trp) in YARS1 and summarized all previously published patients from the literature, carrying alternative, biallelic variants in YARS. We identified a specific multisystem disease affecting not only the central nervous system, but also the liver, the hematopoietic system (anemia), and the endocrine system (hypothyroidism). This evidence concerns the gene YARS1 and anemia (phenotype).