GZMB and Berardinelli-Seip congenital lipodystrophy: Among them, several differential diagnoses such as Berardinelli-Seip congenital lipodystrophy (CGL1-4; MIM: 608594, 279700, 612526 and 613327), Fontaine progeroid syndrome (FPS; MIM: 612289) or Wiedemann-Rautenstrauch syndrome (WDRTS, MIM 264090) were discussed, however; none of these conditions were completely in line with the complex of symptoms observed in individual II-1 (Supplementary Table 3).