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Advanced Download Gene List
  • FGFR2
    • Pfeiffer Syndrome
    • Acrocephalosyndactylia
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FGFR1
    • Pfeiffer Syndrome
  • PMM2
    • Pmm2 Deficiency
  • MEGF8
    • Carpenter Syndrome 1
  • RAB23
    • Carpenter Syndrome 1
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • ACTG2
    • Berdon Syndrome
  • TWIST1
    • Pfeiffer Syndrome
    • Acrocephalosyndactylia
  • DMPK
    • Myotonic Dystrophy
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • ASS1
    • Argininosuccinic Aciduria
    • Citrullinemia Type I
  • MYH11
    • Berdon Syndrome
  • MYLK
    • Berdon Syndrome
  • CTNS
    • Cystinosis

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