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Congenital generalized lipodystrophy type 1
rareAny congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.
- Identifiers
- MONDO:0012071 OMIM:608594Orphanet:696189
- Causal genes
- AGPAT2
- Also known as
- AGPAT2 congenital generalised lipodystrophy (disease) · AGPAT2 congenital generalized lipodystrophy (disease) · AGPAT2-related Brunzell syndrome · Berardinelli-Seip congenital lipodystrophy type 1 · Berardinelli-Seip congenital lipodystrophy, type 1
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