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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PYGM
    • Gastrinoma
    • Glycogen Storage Disease Type V
  • SCN1A
    • Hippocampal Sclerosis
    • Dravet Syndrome
  • MMUT
    • Methylmalonyl-Coa Mutase Deficiency
  • GNAQ
    • Sturge–weber Syndrome
    • Mongolian Spot
  • SLC2A1
    • Adenoid Cystic Carcinoma
    • Glut1 Deficiency
    • Dravet Syndrome
  • MED12
    • Fg Syndrome
  • PMM2
    • Cutis Laxa
    • Pmm2 Deficiency
  • SLC17A5
    • Salla Disease
  • CYP17A1
    • Congenital Adrenal Hyperplasia
  • SHH
    • Holoprosencephaly
  • SIX3
    • Holoprosencephaly
  • TGIF1
    • Holoprosencephaly
  • GLI2
    • Holoprosencephaly
  • FBLN5
    • Cutis Laxa
  • ELN
    • Cutis Laxa
  • IFIH1
    • Singleton Merten Syndrome
  • PYCR1
    • Cutis Laxa
  • EFEMP2
    • Cutis Laxa
  • NODAL
    • Holoprosencephaly

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