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Advanced Download Gene List
  • GALT
    • Müllerian Agenesis
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • GALE
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • CYP4V2
    • Bietti's Crystalline Dystrophy
  • FERMT1
    • Kindler Syndrome
  • TTPA
    • Neurodegeneration
    • Familial Isolated Vitamin E Deficiency
  • SIX1
    • Branchiootorenal Syndrome 2
  • HARS1
    • Charcot-Marie-Tooth Disease, Axonal, Type 2w
    • Perrault Syndrome 2
    • Long Qt Syndrome 2
  • MCOLN1
    • Mucolipidosis Iv
    • Neurodegeneration
  • EYA1
    • Branchiootorenal Syndrome 2
  • CAPN1
    • Spastic Paraplegia 76, Autosomal Recessive
  • LZTFL1
    • Unc119 Lipid-Binding Chaperone
    • Bardet–biedl Syndrome
  • MKS1
    • Bardet–biedl Syndrome
  • LARS2
    • Perrault Syndrome 2
  • SLC2A10
    • Arterial Tortuosity Syndrome
  • CLPP
    • Perrault Syndrome 2
  • CDC42
    • Takenouchi-Kosaki Syndrome
    • Neurodegeneration
  • GNB5
    • Language Delay And Attention Deficit-Hyperactivity Disorder/cognitive Impairment With Or Without Cardiac Arrhythmia
  • BBS10
    • Bardet–biedl Syndrome
  • UBA5
    • Epileptic Encephalopathy, Early Infantile, 44
  • ASPM
    • Microcephaly 14, Primary, Autosomal Recessive

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