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AR
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Ankylosing Spondylitis
- Complete Androgen Insensitivity Syndrome
- True Hermaphroditism
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Down Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Complete Androgen Insensitivity Syndrome
MAGEL2
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Nephronophthisis
- Down Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Complete Androgen Insensitivity Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Pachyonychia Congenita
- Down Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
SS18
- Synovial Sarcoma
KRT17
- Pachyonychia Congenita
LHCGR
- Leydig Cell Hypoplasia
- Down Syndrome
- True Hermaphroditism
NDN
- Prader–willi Syndrome
GDF9
- Primary Ovarian Insufficiency
- Triple X Syndrome
KRT16
- Pachyonychia Congenita
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency