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Advanced Download Gene List
  • TBC1D24
    • Doors Syndrome
    • Door Syndrome
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • ABCA4
    • Stargardt Disease 4
  • FMR1
    • Renpenning's Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • PMM2
    • Pmm2 Deficiency
  • PDGFRB
    • Unicameral Bone Cyst
    • Primary Familial Brain Calcification
  • SLC20A2
    • Primary Familial Brain Calcification
  • GALE
    • Galactose Epimerase Deficiency
  • MAGEL2
    • Schaaf-Yang Syndrome
  • ATP6V1B2
    • Autosomal Dominant Deafness-Onychodystrophy Syndrome
  • GSTZ1
    • Maleylacetoacetate Isomerase Deficiency
  • ELOVL4
    • Stargardt Disease 4
  • SCN4B
    • Long Qt Syndrome 13
  • CNGB3
    • Stargardt Disease 4
  • PDGFB
    • Primary Familial Brain Calcification
  • MEN1
    • Glucagonoma
    • Alpha-Thalassemia Mental Retardation Syndrome
  • PRPH2
    • Stargardt Disease 4
  • GALK1
    • Galactose Epimerase Deficiency
  • COL1A1
    • Fibrous Dysplasia Of Bone
    • Hiatal Hernia
    • Hernia

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