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Advanced Download Gene List
  • WFS1
    • Wolfram Syndrome 1
    • Joint Stiffness
  • ASL
    • Argininosuccinic Aciduria
  • PYGM
    • Glycogen Storage Disease Type V
    • Contracture
  • MLC1
    • Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • PMM2
    • Pmm2 Deficiency
  • CISD2
    • Wolfram Syndrome 1
    • Joint Stiffness
  • HEPACAM
    • Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • LHB
    • Fertile Eunuch Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • FGFR2
    • Hallux Varus
    • Joint Stiffness
    • Ankylosis
  • CLCN2
    • Primary Aldosteronism
    • Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • FBN1
    • Hallux Varus
    • Joint Stiffness
    • Genu Recurvatum
    • Hammer Toe
  • TRPV4
    • Foot Deformity
    • Joint Stiffness
    • Hammer Toe
    • Contracture
    • Coxa Vara
  • FAM155A
    • Diverticulitis
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • ADAMTSL2
    • Joint Stiffness
    • Contracture
  • ANTXR2
    • Joint Stiffness
    • Contracture
  • COL1A1
    • Joint Stiffness
    • Contracture
    • Coxa Vara

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