While many of these features are non-specific, most individuals with 20p11 deletions encompassing FOXA2, as well as those with HI due to pathogenic missense variants in FOXA2, have presented with (pan)hypopituitarism due to pituitary gland defect, midline defects affecting abdominal or cardiovascular organs and the central nervous system, developmental delay and dysmorphism [30, 36–40]. This evidence concerns the gene FOXA2 and Global developmental delay.