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Advanced Download Gene List
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • GJA1
    • Lymphangioleiomyomatosis
    • Neurodegeneration With Brain Iron Accumulation
    • Oculodentodigital Dysplasia
  • WRN
    • Werner Syndrome
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • TSC2
    • Lymphangioleiomyomatosis
  • GNAS
    • Meconium Aspiration Syndrome
    • Mccune-Albright Syndrome
  • MAFB
    • Multicentric Carpotarsal Osteolysis Syndrome
  • TSC1
    • Lymphangioleiomyomatosis
  • PRPS1
    • Neurodegeneration With Brain Iron Accumulation
    • Arts Syndrome
  • PCDH19
    • Epilepsy-Intellectual Disability In Females
    • Epilepsy Syndromes
  • PRRT2
    • Benign Familial Infantile Epilepsy
    • Epilepsy Syndromes
  • GALE
    • Galactose Epimerase Deficiency
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • FBLN5
    • Cutis Laxa
  • ELN
    • Cutis Laxa
  • MMAA
    • Vitamin B12-Responsive Methylmalonic Acidemia
  • PYCR1
    • Cutis Laxa
  • EFEMP2
    • Cutis Laxa
  • WDR45
    • Neurodegeneration With Brain Iron Accumulation
  • NRAS
    • Neurocutaneous Melanosis

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