- Tuberous xanthoma (HP:0031290): A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. Evidence: PCS. Frequency: 1/1. (PMID:17994020)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/1. (PMID:17994020)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: IEA. Frequency: 1/1. (PMID:17994020)
- 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:17994020)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 1/1. (PMID:17994020)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. Frequency: 1/1. (PMID:17994020)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 1/1. (PMID:17994020)
These phenotypes are associated with the disease lipase deficiency, combined (OMIM:246650).