Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 1
Definition
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.
Also known as AGPAT2 congenital generalised lipodystrophy (disease), AGPAT2 congenital generalized lipodystrophy (disease), Berardinelli-Seip congenital lipodystrophy, type 1, BSCL1, CGL1, congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy type 1 — per MONDO