- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309108)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:309108)
- Megaloblastic anemia (HP:0001889): Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:309108)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:309108)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:309108)
- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:309108)
These phenotypes are associated with the disease Pancreatic colipase deficiency (ORPHA:309108).
The following phenotypes are NOT associated with this disease:
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (ORPHA:309108)