But interestingly, in the literature one individual has been reported with developmental delays, laryngeal hypoplasia and a ventricular septal defect, and a homozygous truncating FOXP4 variant: c.815del; p.(Leu272Profs*95).11 Both parents were shown to be heterozygous for this variant, suggesting autosomal recessive inheritance, but no further clinical details were reported on the parents or other family relatives. Here, FOXP4 is linked to Global developmental delay.