0 – 9

11-beta-hydroxylase deficiency
15q11.2 microdeletion
15q13.3 microdeletion syndrome
16p11.2 deletion syndrome
16q24.3 microdeletion syndrome
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17q12 deletion syndrome
17q12 duplication
17q23.1q23.2 microdeletion syndrome
18 Hydroxylase deficiency
19p13.12 microdeletion syndrome
1q duplications
1q21.1 microdeletion syndrome
1q44 microdeletion syndrome
2-Hydroxyglutaric aciduria
2-methyl-3-hydroxybutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
2,4-Dienoyl-CoA reductase deficiency
20p12.3 microdeletion syndrome
21-hydroxylase deficiency
22q11.2 deletion syndrome
22q11.2 duplication syndrome
22q13.3 deletion syndrome
22q13.3 deletion syndrome
2q23.1 microdeletion syndrome
2q37 deletion syndrome
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 methylglutaconic aciduria type V
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3-Hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
3M syndrome
3MC syndrome
3q29 microdeletion syndrome
46,XX testicular disorder of sex development
47 XXX syndrome
47, XYY syndrome
48,XXXY syndrome
48,XYYY
49,XXXXY syndrome
5-alpha reductase deficiency
5-oxoprolinase deficiency
5q minus syndrome
5q- syndrome
5q- syndrome
5q14.3 microdeletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
7q11.23 duplication syndrome
8p23.1 duplication syndrome
8q12 microduplication syndrome