SEL1L and neurodevelopmental disorder: Using whole-exome sequencing (WES), here we report the identification of 3 autosomal recessive variants, SEL1L p.Gly585Asp, p.Met528Arg, and HRD1 p.Pro398Leu, in 6 children from 3 unrelated families with similar neurodevelopmental disorders — termed ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI).