[0-9]

• 10q22.3q23 microdeletion syndrome

• 11-beta-hydroxylase deficiency

• 12q14 microdeletion syndrome

• 15q11.2 microdeletion

• 15q13.3 microdeletion syndrome

• 15q13.3 microduplication syndrome

• 15q24 microdeletion syndrome

• 16p11.2 deletion syndrome

• 16p11.2 duplication

• 16p13.11 microduplication 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

• 2,4-Dienoyl-CoA reductase deficiency

• 2-hydroxyethyl methacrylate sensitization

• 2-Hydroxyglutaric aciduria

• 2-methyl-3-hydroxybutyric aciduria

• 2-Methylacetoacetyl CoA thiolase deficiency

• 2-methylbutyryl-CoA dehydrogenase deficiency

• 20p12.3 microdeletion syndrome

• 21-hydroxylase deficiency

• 22q11.2 deletion syndrome

• 22q11.2 duplication syndrome

• 22q13.3 deletion syndrome

• 2p15p16.1 microdeletion syndrome

• 2q23.1 microdeletion syndrome

• 2q37 deletion syndrome

• 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency

• 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

• 4-hydroxyphenylacetic aciduria

• 46, XY disorders of sexual development

• 46,XX Gonadal dysgenesis epibulbar dermoid

• 46,XX testicular disorder of sex development

• 47 XXX syndrome

• 47, XYY syndrome

• 48,XXXY syndrome

• 48,XXYY syndrome

• 48,XYYY

• 49, XXXYY syndrome

• 49,XXXXX syndrome

• 49,XXXXY syndrome

• 5-alpha reductase deficiency

• 5-Nucleotidase syndrome

• 5-oxoprolinase deficiency

• 5q- syndrome

• 5q14.3 microdeletion syndrome

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• 7q11.23 duplication syndrome

• 8p23.1 duplication syndrome

• 8q12 microduplication syndrome