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Advanced Download Gene List
  • MAGEL2
    • Schaaf-Yang Syndrome
    • Schaaf-Yang Syndrome
  • GALE
    • Galactose Epimerase Deficiency
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • GALT
    • Galactose Epimerase Deficiency
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • SH2D1A
    • Lymphoproliferative Syndrome, X-Linked, 2
  • ATRX
    • Neurofibroma
    • Alpha-Thalassemia Mental Retardation Syndrome
  • ABHD5
    • Neutral Lipid Storage Disease
  • SLC7A9
    • Cystinuria
  • SLC3A1
    • Cystinuria
  • ABCA4
    • Stargardt Disease 4
  • FMR1
    • Renpenning's Syndrome
    • Schaaf-Yang Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • PMM2
    • Pmm2 Deficiency
  • SNRPN
    • Schaaf-Yang Syndrome
  • GALK1
    • Galactose Epimerase Deficiency
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • SLC26A4
    • Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
  • ZNF335
    • Microcephaly 10, Primary, Autosomal Recessive
  • PDGFRB
    • Neurofibroma
    • Neutral Lipid Storage Disease
    • Primary Familial Brain Calcification
  • SLC20A2
    • Primary Familial Brain Calcification
  • FOXI1
    • Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
  • KCNJ10
    • Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

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