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congenital generalized lipodystrophy type 3; Berardinelli-Seip congenital lipodystrophy type 3
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in caveolin-1 gene
Clinical manifestations:
- near-absence of adipose tissue from birth or early infancy
- severe insulin resistance, early onset of diabetes
- hepatic steatosis
Laboratory:
- serum triglycerides: hypertriglyceridemia
General
congenital lipodystrophy
Database Correlations
OMIM 26612526
References
OMIM :accession 612526