- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:23114594)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. (PMID:23114594)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. (PMID:23114594)
- Abdominal colic (HP:0011848): A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:23114594)
- 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:23114594)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:23114594)
These phenotypes are associated with the disease congenital diarrhea 7 with exudative enteropathy (OMIM:615863).