| Disorder | Symbol(s) | OMIM | Location |
| 1p36 deletion syndrome (2) | SKI | 164780 |
1p36.3 |
| 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 300438 (3) | HADH2, ERAB | 300256 |
Xp11.2 |
| 3-Methylcrotonylglycinuria I (3) | MCCC1, MCCA | 210200 |
3q25-q27 |
| 3-Methylcrotonylglycinuria II (3) | MCCC2, MCCB | 210210 |
5q12-q13 |
| 3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3) | HSD3B2 | 201810 |
1p13.1 |
| 3-methylglutaconic aciduria, type I, 250950 (3) | AUH | 600529 |
Chr.9 |
| 3-methylglutaconicaciduria, type III, 258501 (3) | OPA3, MGA3 | 606580 |
19q13.2-q13.3 |
| 3q21q26 syndrome (1) | EVI1 | 165215 |
3q26 |
| 5-oxoprolinuria, 266130 (3) | GSS, GSHS | 601002 |
20q11.2 |
| 6-mercaptopurine sensitivity (3) | TPMT | 187680 |
6p22.3 |
| ABCD syndrome, 600501 (3) | EDNRB, HSCR2, ABCDS | 131244 |
13q22 |
| ACAT2 deficiency (1) (?) | ACAT2 | 100678 |
6q25.3-q26 |
| ACTH deficiency (1) | POMC | 176830 |
2p23.3 |
| ACTH deficiency, 201400 (2) | CRH | 122560 |
8q13 |
| ADULT syndrome, 103285 (3) | TP73L, TP63, KET, EEC3, SHFM4, LMS | 603273 |
3q27 |
| AGAT deficiency (3) | GATM, AGAT | 602360 |
15q15.3 |
| AICA-ribosiduria due to ATIC deficiency, 608688 (3) | ATIC, PURH, AICAR | 601731 |
2q35 |
| ARC syndrome, 208085 (3) | VPS33B | 608552 |
15q26.1 |
| Aarskog-Scott syndrome (3) | FGD1, FGDY, AAS | 305400 |
Xp11.21 |
| Abdominal obesity-metabolic syndrome (2) | AOMS1, SYNX | 605552 |
3q27 |
