PHIP is recognized as haploinsufficient (HI score: 3) in Clinical Genome Resource, and loss-of-function variants are associated with Chung-Jansen syndrome (CHUJANS, OMIM #617991), characterized by developmental delay, intellectual disability, behavioral abnormalities, facial dysmorphism, and obesity. Here, PHIP is linked to obesity due to melanocortin 4 receptor deficiency.