- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:219095)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: IEA. (OMIM:219095)
- Early cutaneous photosensitivity (HP:0007396): Photosensitivity of the skin occurring early in life. Evidence: IEA. (OMIM:219095)
- 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: IEA. (OMIM:219095)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: IEA. (OMIM:219095)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: IEA. (OMIM:219095)
These phenotypes are associated with the disease cutaneous photosensitivity-lethal colitis syndrome (OMIM:219095).