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Advanced Download Gene List
  • OPA3
    • Costeff Syndrome
  • ABCC9
    • Hand Deformity
    • Cantú Syndrome
  • SCN2A
    • Generalized Epilepsy With Febrile Seizures Plus, Type 8
    • Epileptic Encephalopathy, Early Infantile, 40
  • SLC29A3
    • Histiocytosis-Lymphadenopathy Plus Syndrome
    • Contracture
  • ATP1A3
    • Autosomal Dominant Optic Atrophy Plus Syndrome
  • CTC1
    • Coats Plus Syndrome
  • HSPA9
    • Even-Plus Syndrome
  • B3GLCT
    • Peters Plus Syndrome
  • SCN1B
    • Generalized Epilepsy With Febrile Seizures Plus, Type 8
  • KCNJ8
    • Cantú Syndrome
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • SCN1A
    • Generalized Epilepsy With Febrile Seizures Plus, Type 8
    • Epileptic Encephalopathy, Early Infantile, 40
  • STN1
    • Coats Plus Syndrome
  • FGFR2
    • Hallux Varus
    • Joint Stiffness
    • Ankylosis
  • CDKL5
    • Epileptic Encephalopathy, Early Infantile, 40
  • ARX
    • Epileptic Encephalopathy, Early Infantile, 40
  • STXBP1
    • Epileptic Encephalopathy, Early Infantile, 40
  • TSC2
    • Epileptic Encephalopathy, Early Infantile, 40
  • SPTAN1
    • Epileptic Encephalopathy, Early Infantile, 40

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