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  • ALAD
    • Acute Intermittent Porphyria
    • Porphyria Due To Ala Dehydratase Deficiency
    • Aminolevulinic Acid Dehydratase Deficiency Porphyria
    • Porphyria
    • Acute Hepatic Porphyria
  • HMBS
    • Acute Intermittent Porphyria
    • Aminolevulinic Acid Dehydratase Deficiency Porphyria
    • Variegate Porphyria
    • Porphyria
    • Acute Hepatic Porphyria
  • CPOX
    • Acute Intermittent Porphyria
    • Aminolevulinic Acid Dehydratase Deficiency Porphyria
    • Hereditary Coproporphyria
    • Variegate Porphyria
    • Porphyria
    • Acute Hepatic Porphyria
  • PPOX
    • Acute Intermittent Porphyria
    • Aminolevulinic Acid Dehydratase Deficiency Porphyria
    • Hereditary Coproporphyria
    • Variegate Porphyria
    • Porphyria
    • Acute Hepatic Porphyria
  • UBR1
    • Johanson-Blizzard Syndrome
  • GJA1
    • Oculodentodigital Dysplasia, Autosomal Recessive
  • ARID1B
    • Coffin-Siris Syndrome 7
  • ATR
    • Gurrieri Syndrome
    • Seckel Syndrome 4
    • Coffin-Siris Syndrome 7
  • ESCO2
    • Sc Phocomelia Syndrome
  • ARID1A
    • Coffin-Siris Syndrome 7
  • CKAP2L
    • Filippi Syndrome
  • CENPJ
    • Seckel Syndrome 4
  • SMARCE1
    • Coffin-Siris Syndrome 7
  • SOX11
    • Coffin-Siris Syndrome 7
  • ALAS1
    • Acute Intermittent Porphyria
    • Hereditary Coproporphyria
    • Variegate Porphyria
    • Porphyria
  • CLPX
    • Protoporphyria, Erythropoietic, 2
  • TBX15
    • Cousin Syndrome
  • ALX4
    • Frontonasal Dysplasia 2
  • RDH11
    • Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
  • SMARCB1
    • Pinealoblastoma
    • Coffin-Siris Syndrome 7

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