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Congenital generalized lipodystrophy type 2
- ... protein in the brain may help explain why congenital generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some ... Congenital generalized lipodystrophy type 1 Genetic Testing Registry: Congenital ... Testing Registry: Congenital generalized lipodystrophy Genetic Testing ...
- ... Most of the BSCL2 gene mutations that cause congenital generalized lipodystrophy type 2 lead to the production of a nonfunctional version ... underlies most of the signs and symptoms of congenital generalized lipodystrophy type 2. A loss of seipin function in the brain ...
- ... fat underlies the varied signs and symptoms of congenital generalized lipodystrophy type 1. More About This Health Condition 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) 1-AGP acyltransferase 2 ...
- ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features of congenital generalized lipodystrophy type 3 include poor growth and short stature.The ...