A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Loss-of-function variants in EIF3A and EIF3B can lead to a variable multisystem congenital disorder, primarily involving cardiac anomalies, craniofacial differences, and mild neurodevelopmental features. These findings are supported by an international clinical cohort and zebrafish mutant models.