A C84907 Multiple Acyl-CoA Dehydrogenase Deficiency Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C101220 Unilateral Renal Agenesis Unilateral Renal Agenesis Congenital Solitary Kidney A congenital abnormality characterized by the presence of only one kidney. A congenital abnormality characterized by the presence of only one kidney. C99041 Renal Agenesis C99147 Neonatal Research Network Terminology C C99105 VACTERL Association VACTERL Association Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology D C99102 Glutaric Acidemia Type 2 Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology