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FGFR1
- Isolated Cloverleaf Skull Syndrome
- Oxycephaly
- Chiari Malformation
- Osteoglophonic Dysplasia
ERF
- Isolated Cloverleaf Skull Syndrome
- Oxycephaly
- Chiari Malformation
ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
ZIC1
- Oxycephaly
- Chiari Malformation
FGFR2
- Isolated Cloverleaf Skull Syndrome
- Oxycephaly
- Chiari Malformation
- Osteoglophonic Dysplasia
AGGF1
- Klippel-Trenaunay-Weber Syndrome
GTF2I
- Chiari Malformation
- Sjogren Syndrome
IFNG
- Legionnaires' Disease
- Cerebral Creatine Deficiency
- Sjogren Syndrome
STAT4
- Sjogren Syndrome
SRD5A2
- Alopecia, Androgenetic, 1
WDR35
- Isolated Cloverleaf Skull Syndrome
- Oxycephaly
TWIST1
- Oxycephaly
TNFAIP3
- Sjogren Syndrome
AR
- Alopecia, Androgenetic, 1
FUZ
- Chiari Malformation
TNIP1
- Sjogren Syndrome
TLR5
- Legionnaires' Disease
FGFR3
- Isolated Cloverleaf Skull Syndrome
- Oxycephaly
- Chiari Malformation
- Osteoglophonic Dysplasia
EZH2
- Oxycephaly
- Osteoglophonic Dysplasia