congenital generalized lipodystrophy type 2; Berardinelli-Seip congenital lipodystrophy type 2

Epidemiology

rare

Genetics

• autosomal recessive
• associated with defects in Seipin gene

Clinical manifestations

• near-absence of adipose tissue from birth or early infancy
• severe insulin resistance

More general terms

• congenital lipodystrophy

Database

• OMIM: https://mirror.omim.org/entry/269700