| 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 |
| 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3) | HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22 | 300256 |
Xp11.2 |
| 1p36 deletion syndrome (2) | SKI | 164780 |
1p36.3 |
| 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 |
| 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 |
