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AR
- Asymmetric Crying Facies
- Ankylosing Spondylitis
- Androgen Insensitivity Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Partial Androgen Insensitivity Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
ACTB
- Baraitser-Winter Syndrome 2
- Primary Ovarian Insufficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
PRKAR1A
- Synovial Sarcoma
- 2q37 Monosomy
- Carney Complex, Type 2
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
MAGEL2
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Partial Androgen Insensitivity Syndrome
SNRPN
- Prader–willi Syndrome
JPH3
- Huntington Disease-Like 2
- Hypobetalipoproteinemia
HDAC4
- 2q37 Monosomy
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
TCAP
- Cardiomyopathy, Familial Hypertrophic, 25
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency