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Advanced Download Gene List
  • NSD1
    • Sotos Syndrome 1
    • Sotos Syndrome
    • 5q35 Microduplication Syndrome
    • Weaver Syndrome
    • Nevo Syndrome
    • Overgrowth Syndrome
    • Deletion 5q35
    • Multiple Abnormalities
    • Beckwith-Wiedemann Syndrome
  • NFIX
    • Sotos Syndrome 1
    • Sotos Syndrome 2
    • Overgrowth Syndrome
    • Marshall–smith Syndrome
  • GPC3
    • Sotos Syndrome 1
    • Overgrowth Syndrome
    • Perlman Syndrome
    • Beckwith-Wiedemann Syndrome
    • Simpson-Golabi-Behmel Syndrome
    • Gorlin Syndrome
  • SETD2
    • Sotos Syndrome 1
    • Luscan-Lumish Syndrome
    • Overgrowth Syndrome
  • TBX5
    • Holt–oram Syndrome
    • Congenital Limb Deformities
  • ASL
    • Argininosuccinic Aciduria
  • DIS3L2
    • Perlman Syndrome
  • SHANK3
    • Monosomy 22q13.3
  • PMM2
    • Pmm2 Deficiency
  • FMR1
    • Fragile X Syndrome
    • Renpenning's Syndrome
  • SPTBN2
    • Spinocerebellar Ataxia 5
  • PTCH1
    • Gorlin Syndrome
  • SUFU
    • Gorlin Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SIX1
    • Branchio-Oto-Renal Syndrome
  • RECQL4
    • Baller–gerold Syndrome
    • Multiple Abnormalities
  • EZH2
    • Weaver Syndrome
    • Overgrowth Syndrome
  • EYA1
    • Branchio-Oto-Renal Syndrome
  • TGDS
    • Catel–manzke Syndrome
    • Multiple Abnormalities
  • PIK3CA
    • Sotos Syndrome 1
    • Weaver Syndrome
    • Overgrowth Syndrome
    • Multiple Abnormalities
    • Beckwith-Wiedemann Syndrome
    • Fragile X Syndrome

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