Given the biochemical, skeletal, and cartilage phenotypes described to date, we hypothesized that humans with biallelic LOF variants in SLC13A1 may present with a skeletal dysplasia phenotype and markedly decreased plasma sulfate and/or increased urinary sulfate excretion due to disruption of sulfate transport via SLC13A1. This evidence concerns the gene SLC13A1 and skeletal dysplasia.