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  • Rubinstein-Taybi Syndrome (RSTS) Relevant markers:
    Abducted thumbAtrial septal defect (ASD)Beaked noseBroad big toeBroad thumbClinodactyly 5th fingerMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOverlapping toesPolyhydramniosShort long bones
    Parents markers:
    Agenesis of corpus callosum (ACC)HeartHoloprosencephalyHypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)KidneysMicrocephalyNeural tube defectVentricular septal defect (VSD)Wide fontanelles
      Inheritance mode:AD, Sporadic (new mutation)
      Other online databases:OMIM
      References:
      2014 Am J Med Genet A Read on PubMed
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