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GRIN2A
- Landau-Kleffner Syndrome
- Rolandic Epilepsy
ABHD5
- Cerebral Creatine Deficiency
COL1A1
- Osteogenesis Imperfecta
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
COL1A2
- Osteogenesis Imperfecta
COL2A1
- Collagen, Type Ii, Alpha-1
TMC6
- Epidermodysplasia Verruciformis
MC2R
- Familial Glucocorticoid Deficiency
TMC8
- Epidermodysplasia Verruciformis
STX3
- Microvillus Inclusion Disease
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
MRAP
- Familial Glucocorticoid Deficiency
SRPX2
- Rolandic Epilepsy
FH
- Fumarase Deficiency
GABRG2
- Rolandic Epilepsy
RHOH
- Epidermodysplasia Verruciformis
ABCC2
- Alopecia, Androgenetic, 1
SUPV3L1
- Alopecia, Androgenetic, 1