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10q22.3q23.3 microdeletion syndrome
10q22.3q23.3 microduplication syndrome
11p15.4 microduplication syndrome
11q22.2q22.3 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q12.3 microdeletion syndrome
14q11.2 microdeletion syndrome
14q11.2 microduplication syndrome
14q22q23 microdeletion syndrome
14q24.1q24.3 microdeletion syndrome
14q32 duplication syndrome
15q overgrowth syndrome
15q11.2 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q14 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
16p11.2p12.2 microduplication syndrome
16p12.1p12.3 triplication syndrome
16p13.11 microdeletion syndrome
16p13.11 microduplication syndrome
16p13.2 microdeletion syndrome
16p13.3 microduplication syndrome
16q24.1 microdeletion syndrome
16q24.3 microdeletion syndrome
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q12 microduplication syndrome
17q21.31 microduplication syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.12 microdeletion syndrome
19p13.13 microdeletion syndrome
19p13.3 microduplication syndrome
19q13.11 microdeletion syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p35.2 microdeletion syndrome
1p36 deletion syndrome
1q21.1 microdeletion syndrome
1q21.1 microduplication syndrome
1q41q42 microdeletion syndrome
10q22.3q23.3 microduplication syndrome
11p15.4 microduplication syndrome
11q22.2q22.3 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q12.3 microdeletion syndrome
14q11.2 microdeletion syndrome
14q11.2 microduplication syndrome
14q22q23 microdeletion syndrome
14q24.1q24.3 microdeletion syndrome
14q32 duplication syndrome
15q overgrowth syndrome
15q11.2 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q14 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
16p11.2p12.2 microduplication syndrome
16p12.1p12.3 triplication syndrome
16p13.11 microdeletion syndrome
16p13.11 microduplication syndrome
16p13.2 microdeletion syndrome
16p13.3 microduplication syndrome
16q24.1 microdeletion syndrome
16q24.3 microdeletion syndrome
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q12 microduplication syndrome
17q21.31 microduplication syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.12 microdeletion syndrome
19p13.13 microdeletion syndrome
19p13.3 microduplication syndrome
19q13.11 microdeletion syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p35.2 microdeletion syndrome
1p36 deletion syndrome
1q21.1 microdeletion syndrome
1q21.1 microduplication syndrome
1q41q42 microdeletion syndrome
1q44 microdeletion syndrome
2-aminoadipic 2-oxoadipic aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
20q13.33 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
2p13.2 microdeletion syndrome
2p15p16.1 microdeletion syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q23.1 microduplication syndrome
2q24 microdeletion syndrome
2q31.1 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3C syndrome
3M syndrome
3MC syndrome
3p25.3 microdeletion syndrome
3q13 microdeletion syndrome
3q26 microduplication syndrome
3q26q27 microdeletion syndrome
3q27.3 microdeletion syndrome
3q29 microdeletion syndrome
3q29 microduplication syndrome
45,X/46,XY mixed gonadal dysgenesis
46,XX disorder of sex development-anorectal anomalies syndrome
46,XX disorder of sex development-skeletal anomalies syndrome
46,XX ovarian dysgenesis-short stature syndrome
2-aminoadipic 2-oxoadipic aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
20q13.33 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
2p13.2 microdeletion syndrome
2p15p16.1 microdeletion syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q23.1 microduplication syndrome
2q24 microdeletion syndrome
2q31.1 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3C syndrome
3M syndrome
3MC syndrome
3p25.3 microdeletion syndrome
3q13 microdeletion syndrome
3q26 microduplication syndrome
3q26q27 microdeletion syndrome
3q27.3 microdeletion syndrome
3q29 microdeletion syndrome
3q29 microduplication syndrome
45,X/46,XY mixed gonadal dysgenesis
46,XX disorder of sex development-anorectal anomalies syndrome
46,XX disorder of sex development-skeletal anomalies syndrome
46,XX ovarian dysgenesis-short stature syndrome
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY ovotesticular disorder of sex development
47,XYY syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY syndrome
49,XXXXY syndrome
49,XXXYY syndrome
49,XYYYY syndrome
4H leukodystrophy
4p16.3 microduplication syndrome
4q21 microdeletion syndrome
4q25 proximal deletion syndrome
5-fluorouracil poisoning
5-oxoprolinase deficiency
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6-phosphogluconate dehydrogenase deficiency
6p22 microdeletion syndrome
6q terminal deletion syndrome
6q16 microdeletion syndrome
6q25 microdeletion syndrome
7p22.1 microduplication syndrome
7q11.23 microduplication syndrome
7q31 microdeletion syndrome
8p inverted duplication/deletion syndrome
8p11.2 deletion syndrome
8p23.1 duplication syndrome
8p23.1 microdeletion syndrome
8q12 microduplication syndrome
8q21.11 microdeletion syndrome
8q22.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9p13 microdeletion syndrome
9q21.13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
46,XX testicular disorder of sex development
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY ovotesticular disorder of sex development
47,XYY syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY syndrome
49,XXXXY syndrome
49,XXXYY syndrome
49,XYYYY syndrome
4H leukodystrophy
4p16.3 microduplication syndrome
4q21 microdeletion syndrome
4q25 proximal deletion syndrome
5-fluorouracil poisoning
5-oxoprolinase deficiency
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6-phosphogluconate dehydrogenase deficiency
6p22 microdeletion syndrome
6q terminal deletion syndrome
6q16 microdeletion syndrome
6q25 microdeletion syndrome
7p22.1 microduplication syndrome
7q11.23 microduplication syndrome
7q31 microdeletion syndrome
8p inverted duplication/deletion syndrome
8p11.2 deletion syndrome
8p23.1 duplication syndrome
8p23.1 microdeletion syndrome
8q12 microduplication syndrome
8q21.11 microdeletion syndrome
8q22.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9p13 microdeletion syndrome
9q21.13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
