SLC35A2 and multicystic dysplastic kidney: From the whole-exome sequencing data of 900 patients, we identified a male infant carrying a pathogenic hemizygous variant (NM_001032289.3:c.617_620del,p.(Gln206Argfster45)) in SLC35A2 located on the chromosome X. During the prenatal period, the infant was noted to have ventricular enlargement and multicystic renal dysplasia.