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Advanced Download Gene List
  • PQBP1
    • Microlissencephaly
    • Renpenning's Syndrome
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • SGPL1
    • Nephrotic Syndrome, Type 14
  • IFIH1
    • Singleton Merten Syndrome
  • DMPK
    • Myotonic Dystrophy
  • CASK
    • Microlissencephaly
    • Fg Syndrome
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • ASS1
    • Argininosuccinic Aciduria
    • Citrullinemia Type I
  • CTNS
    • Cystinosis
  • CNBP
    • Myotonic Dystrophy
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • KATNB1
    • Microlissencephaly
  • DDX58
    • Singleton Merten Syndrome
  • SOST
    • Craniodiaphyseal Dysplasia
  • NKX2-5
    • Myotonic Dystrophy

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