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  • FMR1
    • Fragile X Syndrome
    • Fg Syndrome
    • Mucopolysaccharidosis Type 2
    • Fragile X-Associated Tremor/ataxia Syndrome
    • Rett Syndrome
  • ABCD1
    • X-Linked Adrenoleukodystrophy
  • IDS
    • Fragile X Syndrome
    • Mucopolysaccharidosis Type 2
  • MECP2
    • Fragile X Syndrome
    • Rett Syndrome
  • NIPBL
    • Congenital Diaphragmatic Hernia
    • Cornelia De Lange Syndrome
  • PMM2
    • Pmm2 Deficiency
    • Congenital Diaphragmatic Hernia
  • SLC12A6
    • Andermann Syndrome
  • MED12
    • Fragile X Syndrome
    • Fg Syndrome
  • DMD
    • Duchenne And Becker Muscular Dystrophy
    • Mcleod Neuroacanthocytosis Syndrome
  • ABCC9
    • Cantú Syndrome
  • SLC17A5
    • Salla Disease
  • GNAQ
    • Erdheim–chester Disease
    • Sturge–weber Syndrome
  • RAD21
    • Congenital Diaphragmatic Hernia
    • Cornelia De Lange Syndrome
  • UMOD
    • Medullary Cystic Kidney Disease
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
    • Rett Syndrome
  • ATL1
    • Hereditary Spastic Paraplegia
  • FLNA
    • Fg Syndrome
    • Intestinal Neuronal Dysplasia
    • Congenital Diaphragmatic Hernia
  • XK
    • Mcleod Neuroacanthocytosis Syndrome
  • HDAC8
    • Congenital Diaphragmatic Hernia
    • Cornelia De Lange Syndrome
    • Rett Syndrome
  • NAA10
    • Lenz Microphthalmia Syndrome

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