A 13 year old girl with multisystemic disfunction characterized by orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder was found to have a deletion of 11 base pairs in one allele of NKCC1 that precluded its function.37 One report associates an autosomal dominant gain of function mutation of NKCC1 in a patient with schizophrenia.38 This evidence concerns the gene SLC12A2 and exocrine pancreatic insufficiency.