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ALX4
- Isolated Scaphocephaly
- Isolated Oxycephaly
- Enlarged Parietal Foramina
ASL
- Argininosuccinic Aciduria
TWIST1
- Isolated Scaphocephaly
- Isolated Oxycephaly
- Enlarged Parietal Foramina
PMM2
- Pmm2 Deficiency
FGFR2
- Double Outlet Right Ventricle
- Isolated Scaphocephaly
- Isolated Oxycephaly
- Enlarged Parietal Foramina
- Fibrolamellar Hepatocellular Carcinoma
SMAD6
- Coarctation Of The Aorta
- Isolated Scaphocephaly
- Isolated Oxycephaly
ERF
- Isolated Scaphocephaly
- Isolated Oxycephaly
ZIC1
- Isolated Scaphocephaly
- Isolated Oxycephaly
MSX2
- Isolated Scaphocephaly
- Enlarged Parietal Foramina
IFT122
- Anodontia
- Isolated Scaphocephaly
- Isolated Oxycephaly
FGFR1
- Anodontia
- Coarctation Of The Aorta
- Isolated Scaphocephaly
- Isolated Oxycephaly
- Fibrolamellar Hepatocellular Carcinoma
FLNB
- Boomerang Dysplasia
GALE
- Galactose Epimerase Deficiency
RTTN
- Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
BBS9
- Isolated Scaphocephaly
- Isolated Oxycephaly
ALB
- Uveitis
- Membranoproliferative Glomerulonephritis
CFH
- Uveitis
- Membranoproliferative Glomerulonephritis
CFC1
- Double Outlet Right Ventricle
NELL1
- Isolated Scaphocephaly
- Isolated Oxycephaly
TCF12
- Isolated Scaphocephaly
- Isolated Oxycephaly