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TP53
- Synovial Sarcoma
- Neural Tube Defect
- Esthesioneuroblastoma
- Li-Fraumeni Syndrome
- Choriocarcinoma
FLCN
- Birt-Hogg-Dube Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
FMR1
- Primary Ovarian Insufficiency
- Rolandic Epilepsy
- Imbecile
CLN6
- Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
FOLR1
- Neural Tube Defect
- Imbecile
CHEK2
- Li-Fraumeni Syndrome
CAT
- Choriocarcinoma
- Acatalasia
- Ankylosing Spondylitis
- Cutis Laxa
- Iron Deficiency
VANGL1
- Neural Tube Defect
VANGL2
- Neural Tube Defect
FUZ
- Neural Tube Defect
SLC25A22
- Early Myoclonic Encephalopathy
FBLN5
- Cutis Laxa
ELN
- Cutis Laxa
PYCR1
- Cutis Laxa
EFEMP2
- Cutis Laxa
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
- Li-Fraumeni Syndrome
- Choriocarcinoma
LTBP4
- Cutis Laxa