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  • ARID1B
    • Hypoglycemia
    • Coffin-Siris Syndrome 2
  • FMR1
    • Fragile X-Associated Tremor/ataxia Syndrome
  • 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
  • SYT2
    • Myasthenic Syndrome, Congenital, 21, Presynaptic
    • Foot Deformity
    • Hammer Toe
  • SMARCE1
    • Coffin-Siris Syndrome 2
  • SOX11
    • Coffin-Siris Syndrome 2
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • FGFR2
    • Hallux Varus
    • Dry Mouth
    • Joint Stiffness
    • Ankylosis
  • PTEN
    • Joint Stiffness
    • Hypoglycemia
    • Genu Recurvatum
    • Anisometropia
  • SMARCB1
    • Pinealoblastoma
    • Coffin-Siris Syndrome 2
  • SMARCA4
    • Coffin-Siris Syndrome 2
  • 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

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