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KCNJ10
- Generalized Tonic–clonic Seizure
- Sesame Syndrome
ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
ATCAY
- Cerebellar Ataxia, Cayman Type
ST3GAL5
- Gm3 Synthase Deficiency
- Paroxysmal Nonkinesigenic Dyskinesia 2
NAGA
- Alpha-N-Acetylgalactosaminidase Deficiency Type 1
TREX1
- Vasculopathy, Retinal, With Cerebral Leukodystrophy
PNKD
- Paroxysmal Nonkinesigenic Dyskinesia 2
AR
- Alopecia, Androgenetic, 1
- Hypospadias
SRD5A2
- Alopecia, Androgenetic, 1
- Hypospadias
HTR2B
- Valvular Heart Disease
DGKK
- Hypospadias
HSD3B2
- Hypospadias
FGFR1
- Hypospadias
- Valvular Heart Disease
PRKAR1A
- Alopecia, Androgenetic, 1
- Hypospadias
MAMLD1
- Hypospadias
PRRT2
- Paroxysmal Nonkinesigenic Dyskinesia 2
ATF3
- Hypospadias
BDNF
- Generalized Tonic–clonic Seizure
- Alopecia, Androgenetic, 1
FGF2
- Generalized Tonic–clonic Seizure
- Alopecia, Androgenetic, 1