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Advanced Download Gene List
  • GRIN2B
    • Epileptic Encephalopathy, Early Infantile, 27
    • Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
    • Intellectual Disability
  • CDKL5
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
    • Angelman Syndrome
  • MECP2
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
    • Angelman Syndrome
    • Torticollis
  • IDS
    • Mucopolysaccharidosis, Type Ii
    • Intellectual Disability
  • SLC46A1
    • Hereditary Folate Malabsorption
    • Intellectual Disability
    • Folate Deficiency
  • UBE3A
    • Intellectual Disability
    • Angelman Syndrome
  • BCL11A
    • Intellectual Disability
    • Bcl11a-Related Intellectual Disability
  • ADNP
    • Intellectual Disability
    • Adnp-Related Intellectual Disability And Autism Spectrum Disorder
  • TCOF1
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
    • Treacher Collins Syndrome
  • ST3GAL3
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
  • SMS
    • Intellectual Disability
    • Snyder-Robinson Syndrome
  • SPTLC1
    • Hereditary Sensory And Autonomic Neuropathy Type I
  • FMR1
    • Mucopolysaccharidosis, Type Ii
    • Intellectual Disability
    • Angelman Syndrome
    • Primary Ovarian Insufficiency
  • PHACTR1
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
  • ARX
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
  • TBCD
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
  • TSC2
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability
    • Pancreatic Neuroendocrine Tumor
  • SSX1
    • Synovial Sarcoma
  • SSX2
    • Synovial Sarcoma
  • STXBP1
    • Epileptic Encephalopathy, Early Infantile, 27
    • Intellectual Disability

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