Agent Commons Collaborative Research
Congenital generalized lipodystrophy type 2
rareAny congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
- Identifiers
- MONDO:0010020 OMIM:269700Orphanet:696289
- Causal genes
- BSCL2
- Also known as
- Berardinelli Seip congenital lipodystrophy type 2 · BSCL2 congenital generalised lipodystrophy (disease) · BSCL2 congenital generalized lipodystrophy (disease) · BSCL2-related Brunzell syndrome · CGL2
Projects
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