| | 2-hydroxyglutaricaciduria |
| | 2-hydroxyethyl methacrylate sensitization |
| | 2-Methylacetoacetyl CoA thiolase deficiency |
| | 2,8 dihydroxy-adenine urolithiasis |
| | 2-Hydroxyglutaricaciduria |
| | 3 hydroxyisobutyric aciduria |
| | 3 methylcrotonic aciduria |
| | 3-methyl glutaconic aciduria |
| | 3 methylglutaconyl-CoA hydratase deficiency |
| | 3-hydroxy 3-methyl glutaryl-CoA lyase deficiency |
| | 3-hydroxyacyl-CoA dehydrogenase deficiency |
| | 3-methyl crotonyl-CoA carboxylase deficiency |
| | 3-Hydroxyisobutyric aciduria |
| | 3 alpha methylcrotonyl-CoA carboxylase 1 deficiency |
| | 3 beta hydroxysteroid dehydrogenase deficiency |
| | 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency |
| | 3 alpha methylglutaconic aciduria, type 3 |
| | 4-hydroxyphenylacetic aciduria , Optic atrophy |
| | 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency |
| | 5-alpha-Oxoprolinase deficiency |
| | 5 alpha reductase 2 deficiency |
| | 6-pyruvoyl-tetrahydropterin synthase deficiency |
| | 6-pyruvoyltetrahydropterin synthase deficiency |
| | 6 alpha mercaptopurine sensitivity |
| | 7-dehydrocholesterol reductase deficiency |
| | 11 beta hydroxylase deficiency |
| | 11 beta hydroxysterid dehydrogenase type 2 deficiency |
| | 17 Beta-hydroxysteroid dehydrogenase deficiency |
| | 17 beta hydroxysteroide dehydrogenase deficiency |
| | 17 alpha hydroxylase deficiency |
| | 18-Hydroxylase deficiency |
| | 21 hydroxylase deficiency |
| | 22q11.2 deletion syndrome |
| | 46 xx gonadal dysgenesis epibulbar dermoid |
| | 46,XX Gonadal dysgenesis epibulbar dermoid |
| | 47 XYY syndrome , see Klinefelter's syndrome |
| | 49,XXXXX syndrome , see Klinefelter's syndrome |
| |