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Advanced Download Gene List
  • COMP
    • Joint Stiffness
    • Genu Recurvatum
    • Pseudoachondroplasia
  • SCNN1B
    • Liddle Syndrome 2
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • AHDC1
    • Xia–gibbs Syndrome
  • MKS1
    • Bardet-Biedl Syndrome 11
  • SAMD9L
    • Ataxia-Pancytopenia Syndrome
  • SAMD9
    • Tumoral Calcinosis, Normophosphatemic, Familial
  • CRYBB3
    • Cataract 22, Multiple Types
  • BBS10
    • Bardet-Biedl Syndrome 11
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • KIDINS220
    • Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
  • AGGF1
    • Klippel-Trenaunay-Weber Syndrome
  • SDCCAG8
    • Bardet-Biedl Syndrome 11
  • LZTFL1
    • Bardet-Biedl Syndrome 11
  • SCNN1G
    • Liddle Syndrome 2
  • BBIP1
    • Bardet-Biedl Syndrome 11
  • DHX30
    • Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language

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