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WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Phakomatosis
- Wagner Vitreoretinopathy
- Turner Syndrome
- Rubella
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Turner Syndrome
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
TP63
- Primary Ovarian Insufficiency
- Acro–dermato–ungual–lacrimal–tooth Syndrome
- Cognitive Deficit
FMR1
- Primary Ovarian Insufficiency
- Cognitive Deficit
KRT17
- Pachyonychia Congenita
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Turner Syndrome
VCAN
- Wagner Vitreoretinopathy
KRT16
- Pachyonychia Congenita
SS18
- Synovial Sarcoma
NOS2
- African Trypanosomiasis
- Cognitive Deficit
- Turner Syndrome
SOX9
- Xy Gonadal Dysgenesis
- Turner Syndrome
DMRT1
- Xy Gonadal Dysgenesis
- Turner Syndrome
MAP3K1
- Xy Gonadal Dysgenesis
- Turner Syndrome
ZFPM2
- Xy Gonadal Dysgenesis
- Turner Syndrome
BCL2
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Hiv/aids
GDF9
- Primary Ovarian Insufficiency
- Turner Syndrome
DHH
- Xy Gonadal Dysgenesis