- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/1. Onset: Young adult onset (HP:0011462). (PMID:20049731)
- Elevated circulating C-peptide concentration (HP:0030796): The concentration of C-peptide in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Decreased adiponectin level (HP:0030685): A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Decreased serum leptin (HP:0003292): A decreased concentration of leptin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- 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:20049731)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
- Diabetic ketoacidosis (HP:0001953): A type of diabetic metabolic abnormality with an accumulation of ketone bodies. Evidence: PCS. Frequency: 1/1. (PMID:20049731)
These phenotypes are associated with the disease CIDEC-related familial partial lipodystrophy (OMIM:615238).