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Advanced Download Gene List
  • ALX4
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
    • Enlarged Parietal Foramina
  • TWIST1
    • Epileptic Encephalopathy, Early Infantile, 15
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
    • Enlarged Parietal Foramina
  • COMP
    • Pseudoachondroplasia
  • SCNN1B
    • Liddle Syndrome 2
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • FGFR2
    • Double Outlet Right Ventricle
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
    • Enlarged Parietal Foramina
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • ERF
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
  • ZIC1
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
  • BBS9
    • Bardet-Biedl Syndrome 11
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
  • MSX2
    • Isolated Scaphocephaly
    • Enlarged Parietal Foramina
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • AHDC1
    • Xia–gibbs Syndrome
  • IFT122
    • Anodontia
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
  • SMAD6
    • Isolated Scaphocephaly
    • Isolated Oxycephaly
  • FLNB
    • Boomerang Dysplasia
  • MKS1
    • Bardet-Biedl Syndrome 11
  • SAMD9L
    • Ataxia-Pancytopenia Syndrome
  • SAMD9
    • Tumoral Calcinosis, Normophosphatemic, Familial
  • CRYBB3
    • Cataract 22, Multiple Types

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