Patients with mutations in the PLAAT3gene have a condition that affects body fat. Some have only small areas missing, while others have very little fat at all. This can lead to health problems such as diabetes, high blood fats, and fatty liver at a young age.
Some may also have nerve problems causing weakness, numbness, or pain in the legs. A subset of patients have delays in development and intellectual disability. Some patients develop skeletal abnormalities such as scoliosis and foot deformities. Boys and men can have enlarged breast tissue. Many patients share certain facial features, such as a more prominent nose and chin, lower-set ears, deep-set eyes, or a low hairline.
PLAAT3