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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
General
congenital lipodystrophy
Database Correlations
OMIM 269700
References
OMIM :accession 269700