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Diseases: All
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10q Partial Trisomy
11-Beta-Hydroxylase Deficiency
15q13.3 Microdeletion Syndrome
17-Alpha-Hydroxylase Deficiency
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-Beta Hydroxysteroid Dehydrogenase Deficiency
17-Beta-Hydroxysteroid Deficiency
17-Ketosteroid Reductase Deficiency
17q21.31 Microdeletion Syndrome
18 Hydroxylase Deficiency
1p36 Deletion Syndrome
1p36.33 Deletion
2,4-Dienoyl-CoA Reductase Deficiency
2-Alpha Methyl-3-Hydroxybutyric Acidemia
2-Hydroxyethyl Methacrylate Sensitization
2-Methyl-3-Hydroxybutyric Aciduria
2-Methylacetoacetyl CoA Thiolase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
21-Hydroxylase Deficiency
22q11.2 Deletion Syndrome
22q11.2 Duplication Syndrome
22q13 Deletion Syndrome
22q13.3 Deletion Syndrome
3 Alpha Methylcrotonyl-Coa Carboxylase 1 Deficiency
3 Alpha Methylcrotonyl-CoA Carboxylase 2 Deficiency
3 Methylglutaconic Aciduria Type I
3 Methylglutaconic Aciduria Type IV
3 Methylglutaconic Aciduria Type IV
3-Alpha Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)
3-Hydroxyisobutyric Aciduria
3-Ketothiolase Deficiency
3-Methylglutaconic Aciduria Type III
3-Methylglutaconyl-CoA Hydratase Deficiency
4-Hydroxyphenylacetic Aciduria
45, X
46,XX Gonadal Dysgenesis Epibulbar Dermoid
47 XXX Syndrome
47, XXX
47, XXY
47, XYY
47, XYY Syndrome
48, XXXX
48, XXYY
49, XXXXX
49,XXXXX Syndrome
5, 10-Methylenetetrahydrofolate Reductase (MTHFR)
5-Alpha Reductase Deficiency
5-Nucleotidase Syndrome
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