| Disorder | Symbol(s) | OMIM | Location |
| 17,20-lyase deficiency, isolated, 202110 (3) | CYP17A1, CYP17, P450C17 | 609300 |
10q24.3 |
| 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3) | CYP17A1, CYP17, P450C17 | 609300 |
10q24.3 |
| 1p36 deletion syndrome (2) | SKI | 164780 |
1p36.3 |
| 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 300438 (3) | HADH2, ERAB | 300256 |
Xp11.2 |
| 2-methylbutyrylglycinuria, 610006 (3) | ACADSB, SBCAD | 600301 |
10q25-q26 |
| 3-M syndrome, 273750 (3) | CUL7 | 609577 |
6p21.1 |
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) | MCCC1, MCCA | 609010 |
3q25-q27 |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3) | MCCC2, MCCB | 609014 |
5q12-q13 |
| 3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3) | HSD3B2 | 201810 |
1p13.1 |
| 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) | HADHSC, SCHAD, HHF4 | 601609 |
4q22-q26 |
| 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) | HIBCH | 610690 |
2q32.2 |
| 3-methylglutaconic aciduria, type I, 250950 (3) | AUH | 600529 |
Chr.9 |
| 3-methylglutaconic aciduria, type III, 258501 (3) | OPA3, MGA3 | 606580 |
19q13.2-q13.3 |
| 3-methylglutaconic aciduria, type V, 610198 (3) | DNAJC19, TIM14 | 608977 |
3q26.3 |
| 3q21q26 syndrome (1) | EVI1 | 165215 |
3q26 |
| 6-mercaptopurine sensitivity, 610460 (3) | TPMT | 187680 |
6p22.3 |
| ABCD syndrome, 600501 (3) | EDNRB, HSCR2, ABCDS | 131244 |
13q22 |
| ACAD9 deficiency, 611126 (3) | ACAD9 | 611103 |
3q26 |
| ACAT2 deficiency (1) (?) | ACAT2 | 100678 |
6q25.3-q26 |
| ACTH deficiency (1) | POMC | 176830 |
2p23.3 |
