Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
17q11.2 microduplication syndrome

Also known as: Grisart-Destree syndrome, Grisart-Destrée syndrome, Nf1 Microduplication Syndrome, chromosome 17q11.2 duplication syndrome, 1.4-mb, dup(17)(q11.2), trisomy 17q11.2

2-aminoadipic 2-oxoadipic aciduria

Also known as: 2-aminoadipic 2-oxoadipic aciduria, AMOXAD, Ketoadipicaciduria, alpha-aminoadipic aciduria, alpha-aminoadipic and alpha-ketoadipic aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

Also known as: 2-methylbutyric aciduria, 2-methylbutyryl Glycinuria, 2-methylbutyryl-CoA dehydrogenase deficiency, 2-methylbutyrylglycinuria, SBCAD deficiency, butyryl-CoA dehydrogenase deficiency, developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency, short branched-chain acyl-CoA dehydrogenase deficiency, short/branched-chain acyl-Coa dehydrogenase deficiency, short/branched-chain acyl-coA dehydrogenase deficiency

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