congenital chloride diarrhea

Genetics

• associated with defects in SLC26A3

Clinical manifestations

• voluminous watery stools
• infants are often premature

Laboratory

• fecal electrolytes show an excess of fecal chloride

More general terms

• hereditary diarrhea
• secretory diarrhea

Database

• OMIM: https://mirror.omim.org/entry/214700