This work provides strong support for the addition of SLC13A1 to short stature, scoliosis, and skeletal dysplasia gene panels, and development of clinical sulfate quantification assays in more laboratories around the world to allow for biochemical phenotyping of individuals with SLC13A1 variants, better understand the role of sulfate in human disease, and inform future treatment options. Here, SLC13A1 is linked to skeletal dysplasia.