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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
TP63
- Acro–dermato–ungual–lacrimal–tooth Syndrome
- Primary Ovarian Insufficiency
MLH1
- Muir–torre Syndrome
MSH2
- Muir–torre Syndrome
FMR1
- Imbecile
- Primary Ovarian Insufficiency
- Rolandic Epilepsy
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
FBLN5
- Cutis Laxa
ELN
- Cutis Laxa
DNMT3A
- Imbecile
- Chronic Myelomonocytic Leukemia
CAT
- Cutis Laxa
- Acatalasia
SLC25A22
- Early Myoclonic Encephalopathy
PYCR1
- Cutis Laxa
EFEMP2
- Cutis Laxa
LTBP4
- Cutis Laxa
SRY
- Xy Gonadal Dysgenesis
- Viremia
- Primary Ovarian Insufficiency
MSH6
- Muir–torre Syndrome
KDM6A
- Chronic Myelomonocytic Leukemia
GRIN2A
- Rolandic Epilepsy
PITX2
- Axenfeld–rieger Syndrome
TET2
- Chronic Myelomonocytic Leukemia