The SLC26 transporters are associated with recessive diseases: SLC26A2 (MIM: 606718) with diastrophic dysplasia (MIM: 222600), SLC26A3 (MIM: 126650) with CLD (MIM: 214700), SLC26A4 (MIM: 605646) with Pendred syndrome (MIM: 274600), and SLC26A5 (MIM: 604943) with deafness (MIM: 613865), without evidence of any disease-related features in heterozygous individuals23. Here, SLC26A4 is linked to Diastrophic dwarfism.