- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 8/8. (PMID:28835676)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: PCS. Frequency: 0/2. (PMID:24867799)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 3/8. (PMID:28835676)
- 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:28835676)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: PCS. Frequency: 10/10. (PMID:24867799;PMID:28835676)
- 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: PCS. Frequency: 2/2. (PMID:24867799)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:24867799)
These phenotypes are associated with the disease hypercholanemia, familial, 2 (OMIM:619256).