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  • MAPT
    • Supranuclear Palsy, Progressive, 1
    • Epilepsy
  • NR5A1
    • Gonadotropin-Resistant Ovary Syndrome
    • Xy Gonadal Dysgenesis
    • Primary Ovarian Insufficiency
  • MAGEL2
    • Prader–willi Syndrome
  • WT1
    • Gonadotropin-Resistant Ovary Syndrome
    • Xy Gonadal Dysgenesis
    • Primary Ovarian Insufficiency
    • Optic Nerve Hypoplasia, Bilateral
  • PNP
    • Purine Nucleoside Phosphorylase Deficiency
  • GNAQ
    • Prader–willi Syndrome
    • Uveal Melanoma
    • Epilepsy
  • SNRPN
    • Prader–willi Syndrome
  • SSX1
    • Synovial Sarcoma
  • SSX2
    • Synovial Sarcoma
  • GNA11
    • Uveal Melanoma
  • BAP1
    • Uveal Melanoma
  • SCN8A
    • Epilepsy
  • FMR1
    • Supranuclear Palsy, Progressive, 1
    • Prader–willi Syndrome
    • Gonadotropin-Resistant Ovary Syndrome
    • Epilepsy
    • Primary Ovarian Insufficiency
  • RBM8A
    • Tar Syndrome
  • SS18
    • Synovial Sarcoma
  • CYP2C19
    • Gonadotropin-Resistant Ovary Syndrome
    • Epilepsy
    • Primary Ovarian Insufficiency
  • NFE2L2
    • Supranuclear Palsy, Progressive, 1
    • Gonadotropin-Resistant Ovary Syndrome
    • Epilepsy
    • Primary Ovarian Insufficiency
  • NDN
    • Prader–willi Syndrome
  • SF3B1
    • Supranuclear Palsy, Progressive, 1
    • Uveal Melanoma
  • DCXR
    • Pentosuria

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