- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. Frequency: 2/7. (PMID:26358773)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 7/7. (PMID:26358773)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 7/7. (PMID:26358773)
- Dependency on parenteral nutrition (HP:0033994): Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. Evidence: PCS. Frequency: 6/7. (PMID:26358773)
- Ileal ulcer (HP:0032024): An erosion of the mucous membrane in a portion of the ileum. Evidence: PCS. Frequency: 1/7. (PMID:26358773)
- Reduced fecal osmolality (HP:0032487): Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. Evidence: PCS. Frequency: 4/5. (PMID:26358773)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 7/7. (PMID:26358773)
- Elevated fecal pH (HP:0032489): Abnormally high fecal pH, i.e., abnormal alkalinity of feces. Evidence: PCS. Frequency: 2/4. (PMID:26358773)
- Abnormal circulating sodium concentration (HP:0010931): Any deviation from the normal concentration of sodium in the blood circulation. Evidence: PCS. Frequency: 0/7. (PMID:26358773)
- Elevated stool chloride content (HP:0034470): Elevated amount of chloride in the stool. Evidence: PCS. Frequency: 7/7. (PMID:26358773)
- Elevated fecal sodium (HP:0032484): An elevated concentration of sodium in feces. Evidence: PCS. Frequency: 6/7. (PMID:26358773)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 1/5. (PMID:26358773)
- 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:26358773)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 2/7. (PMID:26358773)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 7/7. Onset: Congenital onset (HP:0003577). (PMID:26358773)
These phenotypes are associated with the disease congenital secretory sodium diarrhea 8 (OMIM:616868).