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Advanced Download Gene List
  • ADGRG1
    • Polymicrogyria
    • Bilateral Frontoparietal Polymicrogyria
  • FMR1
    • Disinhibition
    • Fg Syndrome
    • Renpenning's Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SLC12A6
    • Andermann Syndrome
  • OPA3
    • Costeff Syndrome
  • MED12
    • Fg Syndrome
  • NGLY1
    • Ngly1 Deficiency
  • PQBP1
    • Renpenning's Syndrome
  • SLC2A1
    • Glut1 Deficiency
  • GALT
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • FAM20A
    • Enamel-Renal Syndrome
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • IFIH1
    • Singleton Merten Syndrome
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
    • Polymicrogyria
  • CD55
    • Protein Losing Enteropathy
  • ASS1
    • Citrullinemia Type I
  • SYCP3
    • Spermatogenesis Arrest
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • FH
    • Polymicrogyria
    • Fumarase Deficiency
  • GALE
    • Galactose-1-Phosphate Uridylyltransferase Deficiency

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