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PRRT2
- Severe Acute Respiratory Syndrome
- Benign Familial Infantile Epilepsy
- Imbecile
- Infantile Convulsions And Choreoathetosis
MAPT
- Supranuclear Palsy, Progressive, 1
MLH1
- Synovial Sarcoma
- Muir–torre Syndrome
MSH2
- Muir–torre Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Supranuclear Palsy, Progressive, 1
- Imbecile
- Rolandic Epilepsy
- Primary Ovarian Insufficiency
SLC25A22
- Early Myoclonic Encephalopathy
FBLN5
- Cutis Laxa
ELN
- Cutis Laxa
DNMT3A
- Imbecile
- Chronic Myelomonocytic Leukemia
SS18
- Synovial Sarcoma
PYCR1
- Cutis Laxa
EFEMP2
- Cutis Laxa
SCN8A
- Imbecile
- Infantile Convulsions And Choreoathetosis
MSH6
- Muir–torre Syndrome
LTBP4
- Cutis Laxa
SRSF2
- Supranuclear Palsy, Progressive, 1
- Chronic Myelomonocytic Leukemia
STX6
- Supranuclear Palsy, Progressive, 1
MOBP
- Supranuclear Palsy, Progressive, 1