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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PQBP1
    • Ankylosis
    • Renpenning's Syndrome
  • SLC17A5
    • Foot Deformity
    • Salla Disease
  • FMR1
    • Renpenning's Syndrome
    • Fg Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
  • FLNA
    • Joint Stiffness
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
    • Winged Scapula
  • PMM2
    • Pmm2 Deficiency
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • UMOD
    • Medullary Cystic Kidney Disease
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • ASS1
    • Citrullinemia Type I
  • FGFR2
    • Hallux Varus
    • Ankylosis
    • Joint Stiffness
  • LEMD3
    • Joint Stiffness
    • Pmm2 Deficiency
    • Melorheostosis
  • GNE
    • Salla Disease
    • Winged Scapula
  • LMNA
    • Ankylosis
    • Foot Deformity
    • Joint Stiffness
    • Fragile X-Associated Tremor/ataxia Syndrome
    • Winged Scapula
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • TRPV4
    • Foot Deformity
    • Joint Stiffness
    • Unequal Leg Length
    • Winged Scapula
  • PTPN22
    • Joint Stiffness
    • Giant Cell Arteritis

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