To our knowledge, this is the first functional and phenotypic characterization of SLC13A1 variants identified in a cohort of children with skeletal dysplasia and biallelic variants in SLC13A1. This genetic disorder is associated with a measurable biomarker in the blood (hyposulfatemia) and urine (hypersulfuria) that ultimately results in abnormal cartilage and bone development and possibly other clinical phenotypes that have yet to be fully recognized. This evidence concerns the gene SLC13A1 and hereditary disease.