BSCL2 and Berardinelli-Seip congenital lipodystrophy: In our study, we first collected 341 cases with BSCL from 60 studies and then inferred the genotype-phenotype associations based on 251 cases with mutations on AGPAT2 or BSCL2 to further illustrate the difference of phenotypic distribution in different BSCL subtypes and genders.