- Hypertriglyceridemia (HP:0002155, a Human Phenotype Ontology term): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 2/2. (PMID:26427795)
- Decreased circulating HDL-C concentration (HP:0003233, a Human Phenotype Ontology term): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:26427795)
- Hypercholesterolemia (HP:0003124, a Human Phenotype Ontology term): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:26427795)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: PCS. (PMID:26427795)
These phenotypes are associated with the disease hypertriglyceridemia 2 (OMIM:619324, an entry in Online Mendelian Inheritance in Man).