- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Abnormality of complement system (HP:0005339): An abnormality of the complement system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2348)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Abnormality of skeletal muscle fiber size (HP:0012084): Any abnormality of the size of the skeletal muscle cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2348)
- Eclampsia (HP:0100601): An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
- Glomerulopathy (HP:0100820): Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2348)
These phenotypes are associated with the disease Familial partial lipodystrophy, Dunnigan type (ORPHA:2348).