- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. (OMIM:614156)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. (OMIM:614156)
- Elevated circulating biliverdin concentration (HP:0034383): Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:19580635)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/1. (PMID:19580635)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. (OMIM:614156)
- 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: TAS. (OMIM:614156)
- Green urine (HP:0032003): An abnormal green color of urine. Evidence: PCS. Frequency: 1/1. (PMID:19580635)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:614156)
These phenotypes are associated with the disease hyperbiliverdinemia (OMIM:614156).