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congenital generalized lipodystrophy type 4
Genetics:
- associated with defects in PTRF
Clinical manifestations:
- association of congenital generalized lipodystrophy with muscular dystrophy & cardiac anomalies
- near-absence of adipose tissue from birth or early infancy
- severe insulin resistance with early-onset diabetes
- hepatic steatosis
Laboratory:
- serum triglycerides: hypertriglyceridemia
General
congenital lipodystrophy
Database Correlations
OMIM 613327
References
OMIM :accession 613327