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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Xx Male Syndrome
- Complete Androgen Insensitivity Syndrome
- Gonadal Dysgenesis
TP53
- Synovial Sarcoma
- Molar Pregnancy
- Li-Fraumeni Syndrome
- Complete Androgen Insensitivity Syndrome
- Edwards Syndrome
- Chromosome 5q Deletion Syndrome
SRY
- Xy Gonadal Dysgenesis
- Molar Pregnancy
- Primary Ovarian Insufficiency
- Xx Male Syndrome
- Triple X Syndrome
- Xyy Syndrome
- True Hermaphroditism
- Complete Androgen Insensitivity Syndrome
- Gonadal Dysgenesis
SOX9
- Xy Gonadal Dysgenesis
- Xx Male Syndrome
- Complete Androgen Insensitivity Syndrome
- Gonadal Dysgenesis
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Li-Fraumeni Syndrome
- Gonadal Dysgenesis
AR
- Primary Ovarian Insufficiency
- Li-Fraumeni Syndrome
- Xx Male Syndrome
- True Hermaphroditism
- Complete Androgen Insensitivity Syndrome
- Gonadal Dysgenesis
VPS13A
- Neuroacanthocytosis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GJA3
- Cataract 14, Multiple Types
SS18
- Synovial Sarcoma
MAP3K1
- Xy Gonadal Dysgenesis
- Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
- True Hermaphroditism
- Gonadal Dysgenesis
CHEK2
- Li-Fraumeni Syndrome
DHH
- Xy Gonadal Dysgenesis
- Gonadal Dysgenesis
FMR1
- Primary Ovarian Insufficiency
- Gonadal Dysgenesis
CYP11A1
- Adrenal Insufficiency, Congenital, With 46,xy Sex Reversal, Partial Or Complete
DMRT1
- Xy Gonadal Dysgenesis
- True Hermaphroditism
- Gonadal Dysgenesis
POU5F1
- Molar Pregnancy
- Primary Ovarian Insufficiency
LHCGR
- True Hermaphroditism
- Leydig Cell Hypoplasia