| Disorder | Symbol(s) | OMIM | Location |
| 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 |
| 46XX true true hermaphroditism, 400045 (3) | SRY, TDF, TDY | 480000 |
Yp11.3 |
| 46XY complete gonadal dysgenesis, 233420 (3) | DHH | 605423 |
12q13.1 |
| 46XY complete gonadal dysgenesis, 400044 (3) | SRY, TDF, TDY | 480000 |
Yp11.3 |
| 46XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion (4) | DEL9p24.3, C9DELp24.3 | 154230 |
9p24.3 |
| 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure, 612965 (3) | NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7 | 184757 |
9q33 |
| 46XY gonadal dysgenesis, complete, CBS2-related, 613080 (3) | CBX2, M33 | 602770 |
17q25 |
| 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3) | DHH | 605423 |
12q13.1 |
| 5-fluorouracil toxicity, 274270 (3) | DPYD, DPD | 612779 |
1p22 |
| 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 |
| ADULT syndrome, 103285 (3) | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 | 603273 |
3q27 |
| AGAT deficiency, 612718 (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 |
