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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
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