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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
RSPH1
- Ciliary Dyskinesia, Primary, 24
- Ciliary Dyskinesia, Primary, 12
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
PNP
- Sinusitis
- Purine Nucleoside Phosphorylase Deficiency
VPS13A
- Neuroacanthocytosis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
MAGEL2
- Prader–willi Syndrome
DNAAF3
- Sinusitis
- Ciliary Dyskinesia, Primary, 12
SNRPN
- Microdeletion Syndrome
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SOX9
- Xy Gonadal Dysgenesis
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
DHH
- Xy Gonadal Dysgenesis
CBX2
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
DRC1
- Ciliary Dyskinesia, Primary, 12
RPS14
- Chromosome 5q Deletion Syndrome