- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 3/3. (PMID:22798447;PMID:6961921)
- Eruptive xanthomas (HP:0001013): Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. Evidence: PCS. Frequency: 1/3. (PMID:22798447;PMID:6961921)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 3/3. (PMID:22798447;PMID:6961921)
- Elevated circulating HDL-C concentration (HP:0012184): The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:22798447)
- Corneal arcus (HP:0001084): A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. Evidence: PCS. Frequency: 1/2. (PMID:6961921)
- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: PCS. Frequency: 1/2. (PMID:6961921)
- 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:1671786)
These phenotypes are associated with the disease hyperlipidemia due to hepatic triglyceride lipase deficiency (OMIM:614025).