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Category: Disease #
3-Methylglutaconic aciduria
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3-Methylcrotonyl-CoA carboxylase deficiency
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency
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2-Hydroxyglutaric aciduria
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6-Pyruvoyltetrahydropterin synthase deficiency
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17-beta-hydroxysteroid dehydrogenase deficiency
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1p36 deletion syndrome
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22q11.2 deletion syndrome
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3 hydroxyisobutyric aciduria
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