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  • ST3GAL3
    • Epileptic Encephalopathy, Early Infantile, 15
    • Mental Retardation, Autosomal Recessive 12
  • COMP
    • Pseudoachondroplasia
  • PAX6
    • Aniridia 3
  • 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
  • TNFAIP3
    • Haploinsufficiency Of A20
  • 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
  • COL2A1
    • Pseudoachondroplasia
    • Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • BBS10
    • Bardet-Biedl Syndrome 11
  • KANK2
    • Palmoplantar Keratoderma And Woolly Hair
  • NPHP1
    • Bardet-Biedl Syndrome 11
    • Nephronophthisis 16
  • KIDINS220
    • Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
  • SDCCAG8
    • Bardet-Biedl Syndrome 11
  • LZTFL1
    • Bardet-Biedl Syndrome 11

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