The affected individual (P9) in the present cohort harbored a novel variant, c.1336-11_1336-1del (in SLC34A3) in the homozygous state with all the characteristic features of HHRH including clinical and biochemical profiles (Table 1 and Supplementary Table S1) [7]. Here, SLC34A3 is linked to hereditary hypophosphatemic rickets with hypercalciuria.