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  • Thrombocytopenia Absent Radius (TAR) syndrome Relevant markers:
    Absent radiusAbsent thumbAtrial septal defect (ASD)ClubhandDextrocardiaDislocated hip/sHypoplasia/partial agenesis of vermisHypoplastic femur/sHypoplastic humerus/humeriHypoplastic thumb/sHypoplastic ulna/sMicrognathia/retrognathiaOligohydramniosTalipesTetralogy of Fallot (TOF)
    Parents markers:
    Agenesis of corpus callosum (ACC)Cleft in hard palateHeartKidneysSyndactyly of toes
      Incidence:- — 1/10000
      Involved genes:
      (gene — definition — chromosome)      		RBM8A — 1q21.1
      Inheritance mode:AR
      Other online databases:OrphaNet, OMIM, Geneva Foundation
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