Hypophosphatemic NL/osteoporosis 2 (OMIM phenotype number 612287) is an AD condition due to an inactivating variant in SLC9A3R1, resulting in loss of NHERF1 activity with subsequent decrease in NPT2a expression, resulting in renal phosphorus wasting with hypophosphatemia (Courbebaisse et al., 2012). This evidence concerns the gene NHERF1 and hypophosphatemia.