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- 10q Partial Trisomy
- 11-Beta-Hydroxylase Deficiency
- 12q14 microdeletion syndrome
- 15q13.3 Microdeletion Syndrome
- 16p11.2 deletion syndrome
- 16p11.2 duplication syndrome
- 16p13.11 microdeletion syndrome
- 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
- 17-Alpha-Hydroxylase Deficiency
- 17-Beta hydroxysteroid dehydrogenase 3 deficiency
- 17-Beta hydroxysteroid dehydrogenase deficiency
- 17-Ketosteroid Reductase Deficiency
- 17q21.31 Microdeletion Syndrome
- 17q21.31 deletion syndrome
- 17q21.31 microdeletion syndrome
- 17q23.1q23.2 Microdeletion Syndrome
- 18 Hydroxylase Deficiency
- 1p partial monosomy
- 1p36 Deletion Syndrome
- 1q21.1 microdeletion syndrome
- 1q21.1 microduplication syndrome
- 2 Duplication Syndrome
- 2,4-Dienoyl-coenzyme A reductase deficiency
- 2,4-dienoyl-CoA reductase deficiency
- 2-MBAD deficiency
- 2-MBCD deficiency
- 2-Methyl-3-Hydroxybutyric Acidemia
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency
- 2-Methylbutyrylglycinuria
- 2-methyl-3-hydroxybutyric aciduria
- 2-methyl-3-hydroxybutyricacidemia
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 2-methylacetoacetyl-coenzyme A thiolase deficiency
- 21-Hydroxylase Deficiency
- 21q deletion
- 21q monosomy
- 22q11.2 Deletion Syndrome
- 22q11.2 Duplication Syndrome
- 22q13 Deletion Syndrome
- 22q13.3 Deletion Syndrome
- 2M3HBA
- 2MBG
- 2q23.1 microdeletion syndrome
- 2q32-q33 microdeletion syndrome
- 2q32q33 microdeletion syndromes
- 2q37 deletion syndrome
- 3 Methylglutaconic Aciduria Type IV
- 3 alpha methylglutaconic aciduria type I
- 3-Alpha Hydroxyacyl-CoA Dehydrogenase Deficiency
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
- 3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)
- 3-Hydroxy-3-methylglutaric aciduria
- 3-Hydroxyisobutyric Aciduria
- 3-MCC deficiency
- 3-MGCA type I (3-MGCA-1)
- 3-MGCA type IV (formerly)
- 3-MGCA-4 (formerly)
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria type III
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-alpha methylglutaconic aciduria type III
- 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency
- 3-alpha-oxothiolase deficiency
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- 3-hydroxylacyl-CoA dehydrogenase deficiency
- 3-ketothiolase deficiency
- 3-methylcrotonylglycinuria
- 3-methylglutaconic aciduria
- 3-methylglutaconic aciduria type I
- 3-methylglutaconic aciduria type II
- 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome
- 3-methylglutaconic aciduria type V
- 3-methylglutaconic aciduria type VI
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- 3-methylglutaconyl-CoA hydratase deficiency
- 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
- 3-oxothiolase deficiency
- 3H2MBD deficiency
- 3M syndrome
- 3MCC
- 3MG CoA hydratase deficiency
- 3MGA
- 3p deletion syndrome
- 3p25 microdeletion syndrome
- 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-Hydroxyphenylpyruvate dioxygenase deficiency
- 4-enoyl CoA reductase deficiency
- 46, XY disorders of sexual development
- 46,XX Gonadal Dysgenesis Epibulbar Dermoid
- 47, XYY
- 47, XYY Syndrome
- 48, XXXX
- 48, XXYY
- 49, XXXXY
- 49, XXXXY syndrome
- 4p partial monosomy syndrome
- 5-OXO
- 5-Oxoprolinase Deficiency
- 5-Oxoprolinuria
- 5p deletion syndrome
- 5p minus syndrome
- 5p partial monosomy syndrome
- 5p- syndrome
- 5q- Syndrome
- 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
- 8p inverted duplication/deletion syndrome
- 8p23.1 Duplication Syndrome
- 9q- syndrome
- 9q34.3 deletion syndrome
- 9q34.3 microdeletion syndrome
