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NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Gonadal Dysgenesis
MAGEL2
- Prader–willi Syndrome
- Tongue Thrust
ABHD5
- Neutral Lipid Storage Disease
PKD2
- Autosomal Dominant Polycystic Kidney Disease
PNP
- Purine Nucleoside Phosphorylase Deficiency
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Gonadal Dysgenesis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
PKD1
- Autosomal Dominant Polycystic Kidney Disease
FLNB
- Xy Gonadal Dysgenesis
- Exhibitionism
- Ankylosing Spondylitis
- Boomerang Dysplasia
SNRPN
- Prader–willi Syndrome
SRY
- Xy Gonadal Dysgenesis
- Gonadal Dysgenesis
ATXN3
- Machado–joseph Disease
SS18
- Synovial Sarcoma
BCS1L
- Björnstad Syndrome
RPS14
- Chromosome 5q Deletion Syndrome
SOX9
- Xy Gonadal Dysgenesis
- Gonadal Dysgenesis
FMR1
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
- Gonadal Dysgenesis
NDN
- Prader–willi Syndrome