In a 472-person cohort consisting of individuals with confirmed or high suspicion of DBA, Ulirsch et al. observed that 83% of cases with an RPL5 mutation associated with at least one congenital malformation in contrast to RPS19 mutations, which showed any congenital malformation in only 34% of cases [16]. The gene discussed is RPS19; the disease is Diamond-Blackfan anemia.