Version July 2025
| Regional or complete absence of adipose tissue, with variable presence of regions with excess adipose tissue accumulation |
| Acanthosis nigricans (associated with severe hyperinsulinemia) |
| Muscle hypertrophy, prominent veins |
Hepatomegaly
|
| Hypertrichosis, hirsutism (occasionally) |
| Cardiomegaly due to hypertrophic cardiomyopathy (occasionally) |
| Developmental delay (occasionally) |
Metabolic abnormalities
|
