- Increased urine harderoporphyrin level (HP:0033627): Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 13/13. (PMID:7757079;PMID:31085196)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. (OMIM:618892)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. (OMIM:618892)
- Neonatal hyperbilirubinemia (HP:0003265): A type of hyperbilirubinemia with neonatal onset. Evidence: TAS. (OMIM:618892)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:618892)
- Increased urinary porphobilinogen (HP:0012217): The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. (OMIM:618892)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. (OMIM:618892)
- Increased fecal harderoporphyrin (HP:0034472): Abnormally high concentration of harderoporphyrin in feces. Evidence: PCS. Frequency: 3/3. (PMID:7757079)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. (OMIM:618892)
- 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:7757079)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. (OMIM:618892)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. (OMIM:618892)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:618892)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: TAS. (OMIM:618892)
- Red urine (HP:0040318): An abnormal red color of the urine. Evidence: TAS. (OMIM:618892)
These phenotypes are associated with the disease harderoporphyria (OMIM:618892).