- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: PCS. Frequency: 2/2. (PMID:24262094)
- Hypocholesterolemia (HP:0003146): An decreased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:24262094)
- 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: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:24262094)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24262094)
- Elevated sweat chloride (HP:0012236): An increased concentration of chloride in the sweat. Evidence: PCS. Frequency: 0/2. (PMID:24262094)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:24262094)
These phenotypes are associated with the disease pancreatic triacylglycerol lipase deficiency (OMIM:614338).