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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease opitz g/bbb syndrome
Comorbidity C0023787|lipodystrophy
Sentences 2
PubMedID- 20041886 Overlapping syndrome with familial partial lipodystrophy, dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin a/c mutations.
PubMedID- 26587075 In some of the studies the participants also had signs of body fat redistribution and evidence of dyslipidemia and lipodystrophy, and some with aids wasting syndrome, but post-pneumocystis carinii pneumonia and opportunistic infections with stable body mass.

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