The CNS phenotype of the aborted fetus is not available; however, the fetus also carried the homozygous TBC1D32 p.Arg411_Gly458del truncation and displayed cleft lip and intestinal malrotation, adding the latter feature to the list of associated phenotypes in biallelic TBC1D32 loss-of-function variant carriers. Here, TBC1D32 is linked to cleft lip.