FANDOM


10q22.3q23.3 microdeletion syndrome [↗]
10q22.3q23.3 microduplication syndrome [↗]
10q24 microduplication syndrome [↗]
11-beta-hydroxysteroid dehydrogenase deficiency type 1 [↗]
11-beta-hydroxysteroid dehydrogenase deficiency type 2 [↗]
11p11.2 deletion [↗]
12q14 microdeletion syndrome [↗]
13q32 deletion [↗]
14q11.2 microdeletion syndrome [↗]
14q11.2 microduplication syndrome [↗]
14q12 microdeletion syndrome [↗]
14q22 microdeletion syndrome [↗]
14q22q23 microdeletion syndrome [↗]
14q22-q23 microdeletion syndrome [↗]
15q11.2 microdeletion syndrome [↗]
15q11q13 duplication syndrome [↗]
15q11-q13 duplication syndrome [↗]
15q11q13 microduplication syndrome [↗]
15q11-q13 microduplication syndrome [↗]
15q13.3 microdeletion syndrome [↗]
15q14 microdeletion syndrome [↗]
15q24 microdeletion syndrome [↗]
15q26 deletion [↗]
16p11.2 microdeletion syndrome [↗]
16p11.2 microduplication syndrome [↗]
16p11.2p12.2 microdeletion syndrome [↗]
16p11.2-p12.2 microdeletion syndrome [↗]
16p13.11 microdeletion syndrome [↗]
16p13.11 microduplication syndrome [↗]
16p13.3 deletion syndrome [↗]
16q24.3 microdeletion syndrome [↗]
17-beta-hydroxysteroid dehydrogenase 3 deficiency [↗]
17b-hydroxysteroid dehydrogenase deficiency type 10 [↗]
17 ketoreductase deficiency [↗]
17 ketosteroidreductase deficiency [↗]
17p11.2 microdeletion [↗]
17p11.2 microduplication syndrome [↗]
17p13.3 duplication syndrome [↗]
17p13.3 microduplication syndrome [↗]
17q11.2 microduplication syndrome [↗]
17q11 microdeletion syndrome [↗]
17q12 microdeletion syndrome [↗]
17q12 microduplication syndrome [↗]
17q21.31 microdeletion syndrome [↗]
17q21.31 microduplication syndrome [↗]
17q23.1q23.2 microdeletion syndrome [↗]
17q23.1-q23.2 microdeletion syndrome [↗]
18-hydroxylase deficiency [↗]
18-oxidase deficiency [↗]
18p- syndrome [↗]
18q- syndrome [↗]
19p13.12 microdeletion syndrome [↗]
19q13.11 microdeletion syndrome [↗]
1q21.1 microdeletion syndrome [↗]
1q21.1 microduplication syndrome [↗]
1q41q42 microdeletion syndrome [↗]
1q41-q42 microdeletion syndrome [↗]
1q44 microdeletion syndrome [↗]
20p12.3 microdeletion syndrome [↗]
20q13.33 microdeletion syndrome [↗]
21q22.11q22.12 microdeletion syndrome [↗]
21q22.11-q22.12 microdeletion syndrome [↗]
21q22.13q22.2 microdeletion syndrome [↗]
21q22.13-q22.2 microdeletion syndrome [↗]
22q11.2 microduplication syndrome [↗]
22q13 deletion [↗]
2,8 dihydroxyadenine urolithiasis [↗]
2-aminoadipic aciduria [↗]
2-hydroxyglutaricaciduria [↗]
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [↗]
2-methylacyl-CoA racemase deficiency [↗]
2-methylbutyric aciduria [↗]
2-oxo-glutarate complex deficiency [↗]
2p15p16.1 microdeletion syndrome [↗]
2p15-p16.1 microdeletion syndrome [↗]
2p21 deletion [↗]
2p21 microdeletion syndrome [↗]
2q23.1 microdeletion syndrome [↗]
2q24 microdeletion syndrome [↗]
2q31.1 microdeletion syndrome [↗]
2q32q33 microdeletion syndrome [↗]
2q32-q33 microdeletion syndrome [↗]
2q33.1 microdeletion syndrome [↗]
2q37 microdeletion syndrome [↗]
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency [↗]
3C syndrome [↗]
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency [↗]
3-hydroxy-3-methylglutaric aciduria [↗]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency [↗]
3-hydroxy 3-methylglutaryl-CoA synthase deficiency [↗]
3-hydroxyisobutyric aciduria [↗]
3-methylcrotonyl-CoA carboxylase deficiency [↗]
3-methylcrotonylglycinuria [↗]
3-methylglutaconic aciduria type 1 [↗]
3-methylglutaconic aciduria type 2 [↗]
3-methylglutaconic aciduria type 3 [↗]
3-methylglutaconic aciduria type 4 [↗]
3-methylglutaconyl-CoA hydratase deficiency [↗]
3MG-coA hydratase deficiency [↗]
3M syndrome [↗]
3-M syndrome [↗]
3-Phosphoglycerate dehydrogenase deficiency [↗]
3-Phosphoserine phosphatase deficiency [↗]
3q13 microdeletion syndrome [↗]
3q26 microduplication syndrome [↗]
3q29 microdeletion syndrome [↗]
3q29 microduplication [↗]
3q subtelomere deletion syndrome [↗]
3qter deletion [↗]
45,X0/46,XY MGD [↗]
45,X0/46,XY mixed gonadal dysgenesis [↗]
45,X/46,XX syndrome [↗]
45,X/46,XY MGD [↗]
45,X/46,XY mixed gonadal dysgenesis [↗]
45X/46XY mosaicism [↗]
45,X syndrome [↗]
46,XX/46,XY chimerism [↗]
46,XX complete gonadal dysgenesis [↗]
46,XX disorder of sex development - anorectal anomalies [↗]
46,XX disorder of sex development - skeletal anomalies [↗]
46,XX gonadal dysgenesis [↗]
46,XX ovarian dysgenesis [↗]
46,XX pure gonadal dysgenesis [↗]
46,XX testicular disorder of sex development [↗]
46,XX testicular DSD [↗]
46,XY CGD [↗]
46,XY complete gonadal dysgenesis [↗]
46,XY disorder of sex development - adrenal insufficiency [↗]
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 gonadal dysgenesis - motor and sensory neuropathy [↗]
46,XY partial gonadal dysgenesis [↗]
46,XY partial testicular dysgenesis [↗]
46,XY PGD [↗]
46,XY pure gonadal dysgenesis [↗]
46,XY sex development disorder due to LH defects [↗]
47,XXX [↗]
47,XYY syndrome [↗]
48,XXXX [↗]
48, XXXY [↗]
48,XXXY syndrome [↗]
48,XXYY [↗]
48,XXYY syndrome [↗]
48,XYYY syndrome [↗]
49,XXXXX [↗]
49, XXXXY [↗]
49,XXXXY syndrome [↗]
49,XXXYY syndrome [↗]
49,XYYYY syndrome [↗]
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency [↗]
4-HPPD deficiency [↗]
4H syndrome [↗]
4-hydroxybutyricaciduria [↗]
4-hydroxyphenylpyruvic acid dioxygenase deficiency [↗]
4p- syndrome [↗]
4q21 microdeletion syndrome [↗]
5-amino-4-imidazolecarboxamide ribosiduria [↗]
5-fluorouracil overdose [↗]
5-methyltetrahydrofolate-homocysteine S-methyltransferase [↗]
5-oxoprolinase deficiency [↗]
5q14.3 microdeletion syndrome [↗]
5q35 microduplication syndrome [↗]
5q- syndrome [↗]
6p22 microdeletion syndrome [↗]
6p25 microdeletion syndrome [↗]
6-phosphogluconate dehydrogenase deficiency [↗]
6p subtelomere deletion syndrome [↗]
6-pyruvoyl-tetrahydropterin synthase deficiency [↗]
6q25 microdeletion syndrome [↗]
6q terminal deletion [↗]
7-dehydrocholesterol reductase deficiency [↗]
7q11.23 microduplication syndrome [↗]
7q31 microdeletion syndrome [↗]
8p11.2 deletion syndrome [↗]
8p11 myeloproliferative syndrome [↗]
8p23.1 microdeletion syndrome [↗]
8p23.1 microduplication syndrome [↗]
8p inverted duplication/deletion [↗]
8q12 microduplication syndrome [↗]
8q13 microdeletion syndrome [↗]
8q22.1 microdeletion syndrome [↗]
9p deletion syndrome [↗]
9p- syndrome [↗]
9q subtelomeric deletion syndrome [↗]

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