- Meconium ileus (HP:0004401): Obstruction of the intestine due to abnormally thick meconium. Evidence: PCS. Frequency: 11/15. (PMID:22521417)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 11/11. (PMID:22521417)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: TAS. (OMIM:614665)
- 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:22521417)
- Abnormal sweat electrolytes (HP:0040128). Evidence: PCS. Frequency: 0/15. (PMID:22521417)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 2/15. (PMID:22521417)
These phenotypes are associated with the disease intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (OMIM:614665).