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Advanced Download Gene List
  • CACNA1A
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized
  • TWNK
    • Infantile-Onset Spinocerebellar Ataxia
  • ACTG2
    • Joint Stiffness
    • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
  • DBH
    • Dopamine Beta Hydroxylase Deficiency
  • IFIH1
    • Singleton Merten Syndrome
  • CACNA1H
    • Childhood Absence Epilepsy
    • Epilepsy, Childhood Absence, Susceptibility To, 6
    • Epilepsy, Idiopathic Generalized
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • KRT14
    • Dermatopathia Pigmentosa Reticularis
  • GABRB3
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized
  • CACNA2D2
    • Childhood Absence Epilepsy
  • MYH11
    • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
  • FGFR2
    • Hallux Varus
    • Joint Stiffness
    • Ankylosis
  • SLC2A1
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized
  • MYLK
    • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
  • JRK
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized
  • FBN1
    • Hallux Varus
    • Joint Stiffness
    • Genu Recurvatum
    • Hammer Toe
  • EFHC1
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized
  • TRPV4
    • Foot Deformity
    • Joint Stiffness
    • Hammer Toe
    • Contracture
    • Coxa Vara
  • GABRD
    • Joint Stiffness
    • Childhood Absence Epilepsy
    • Epilepsy, Idiopathic Generalized

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