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  • PQBP1
    • Ankylosis
    • Contracture
    • Renpenning's Syndrome
  • TTPA
    • Hammer Toe
    • Familial Isolated Vitamin E Deficiency
  • ARID1B
    • Coffin-Siris Syndrome 2
  • ATR
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
    • Coffin-Siris Syndrome 2
  • FLVCR1
    • Posterior Column Ataxia With Retinitis Pigmentosa
  • CENPJ
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
  • ARID1A
    • Coffin-Siris Syndrome 2
  • PCNT
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
    • Coxa Vara
  • IFIH1
    • Singleton Merten Syndrome
  • SMARCE1
    • Coffin-Siris Syndrome 2
  • SOX11
    • Coffin-Siris Syndrome 2
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • SMARCB1
    • Pinealoblastoma
    • Coffin-Siris Syndrome 2
  • SMARCA4
    • Coffin-Siris Syndrome 2
    • Vascular Tumor
  • SMARCA1
    • Coffin-Siris Syndrome 2
  • ATRIP
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
  • TRAIP
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
  • CENPE
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
  • PLK4
    • Microcephaly And Chorioretinopathy, Autosomal Recessive, 2

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