Herein, we describe phenotypic features of 3 children and 1 aborted fetus from 2 unrelated pedigrees that are affected by biallelic loss-of-function variants in TBC1D32. Our results, together with those of Adly et al, confirm that TBC1D32 variants underlie a recessive disorder demarcated by severe but highly variable expression of midline defects, including congenital hypopituitarism due to abnormal hypothalamo-pituitary development. Here, TBC1D32 is linked to hypopituitarism.