Preferred Label : ethylmalonic encephalopathy;

MeSH note : clinical heterogeneity exists; early-onset encephalopathy, developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea, microangiopathy, and ethylmalonic acid in urine; see ETHE1 protein, human (C483228);

MeSH synonym : syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; encephalopathy, ethylmalonic; encephalopathy, petechiae, and ethylmalonic aciduria; epema syndrome;

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=51188
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ethylmalonic encephalopathy
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02/05/2025


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