We also highlight case 17DG0032 whose lethal Neu-Laxova syndrome-like presentation represents a phenotypic expansion compared to the four patients reported to date with the lethal LARS2-related HLSA (hydrops, lactic acidosis, and sideroblastic anemia) syndrome (Altawil et al., manuscript in preparation and [24, 25]). The gene discussed is LARS2; the disease is sideroblastic anemia.