- Conjugated hyperbilirubinemia (HP:0002908). Evidence: TAS. (OMIM:243300)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. (PMID:19478059)
- Intermittent jaundice (HP:0001046): Jaundice that is sometimes present, sometimes not. Evidence: TAS. (OMIM:243300)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:243300)
- 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:243300)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. (OMIM:243300)
- Intrahepatic cholestasis with episodic jaundice (HP:0006575). Evidence: TAS. (OMIM:243300)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: TAS. (OMIM:243300)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. (OMIM:243300)
These phenotypes are associated with the disease benign recurrent intrahepatic cholestasis type 1 (OMIM:243300).