PhenomeGene — Human Disease Gene Website SeriesSLC9A3

Clinical Characteristics

Autosomal-recessive congenital secretory sodium diarrhea (CSD) is caused by loss‐of‐function of both inherited SLC9A3genes. Females carrying a child with CSD may exhibit prominent abdominal distention in utero due to high fetal intestinal fluid output. Newborn children with CSD will produce watery sodium‐rich diarrhea, metabolic acidosis, growth failure, and sometimes later bowel inflammation.