We describe a syndromic phenotype including GDD/ID, seizures, and variable dysmorphic features and limb abnormalities, associated with autosomal recessive inheritance of a recurrent, loss-of-function frameshift variant in EMC10. Our cohort exhibits multiple renal abnormalities, which are difficult to reconcile with a single underlying genetic mechanism; thus, we cannot confidently ascribe a renal phenotype to the reported variant. Here, EMC10 is linked to Global developmental delay.