- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 0/2. (PMID:2107739)
- Decreased circulating apolipoprotein B concentration (HP:0034075): The concentration of apolipoprotein B in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 0/2. (PMID:2107739)
- 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:2107739)
- Abnormal circulating cholesterol concentration (HP:0003107): Any deviation from the normal concentration of cholesterol in the blood circulation. Evidence: PCS. Frequency: 0/2. (PMID:2107739)
- Decreased circulating apolipoprotein A-II concentration (HP:0034602): The concentration of apolipoprotein A-II in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:2107739)
- Decreased circulating apolipoprotein A-I concentration (HP:0031799): The concentration of apolipoprotein A-I in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 0/2. (PMID:2107739)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: PCS. Frequency: 0/1. (PMID:2107739)
These phenotypes are associated with the disease apolipoprotein A-II deficiency (OMIM:621417).