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  • ST3GAL3
    • Epileptic Encephalopathy, Early Infantile, 15
    • Mental Retardation, Autosomal Recessive 12
  • COMP
    • Pseudoachondroplasia
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • SCNN1B
    • Liddle Syndrome 2
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • LIN28B
    • Neuroblastoma, Susceptibility To, 7
  • TNFAIP3
    • Haploinsufficiency Of A20
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • NTRK2
    • Epileptic Encephalopathy, Early Infantile, 15
    • Neuroblastoma, Susceptibility To, 7
  • PHOX2B
    • Pinealoblastoma
    • Neuroblastoma, Susceptibility To, 7
  • AHDC1
    • Xia–gibbs Syndrome
  • MKS1
    • Bardet-Biedl Syndrome 11
  • CD55
    • Neuroblastoma, Susceptibility To, 7
    • Protein Losing Enteropathy
  • SAMD9L
    • Ataxia-Pancytopenia Syndrome
  • MYCN
    • Pinealoblastoma
    • Neuroblastoma, Susceptibility To, 7
    • Trilateral Retinoblastoma
  • SAMD9
    • Tumoral Calcinosis, Normophosphatemic, Familial
  • CRYBB3
    • Cataract 22, Multiple Types
  • COL2A1
    • Pseudoachondroplasia
    • Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • ALK
    • Neuroblastoma, Susceptibility To, 7
  • LMO1
    • Neuroblastoma, Susceptibility To, 7

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