PHS, on the other hand, shows a lethal condition involving hypothalamic dysfunction, skeletal limb defects, craniofacial and urogenital malformation attributed to pathogenic variants of GLI3 gene, typically within or around the PC domain of the GLI3 protein, resulting in a relative reduction in the functioning of the GLI3 repressor form [16]. Here, GLI3 is linked to Pallister-Hall syndrome.