Multisystem dysfunction – endocrine abnormalities, low blood pressure, intestinal dysfunction (autosomal dominant – mistrafficking of mutant NKCC1 to apical membrane in epithelial cells) (Delpire et al., 2016; Koumangoye et al., 2018) Kilquist syndrome – sensorineural deafness, intestinal and respiratory dysfunction, neuropsychological delay, severe xerostomia (autosomal recessive; loss of function) (Macnamara et al., 2019) Schizofrenia – (autosomal dominant; gain of function) (Merner et al., 2016). Here, SLC12A2 is linked to Kilquist syndrome.