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  • Baraitser Winter syndrome 1 Relevant markers:
    ClubfootDysplastic kidney/sHydropsHyperechogenic bowelHypertelorismMild pyelectasis/hydronephrosisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphaloceleRocker-bottom feetShort long bonesSingle umbilical artery (SUA)Small/collapsed/absent stomachUnilateral cleft lipTricuspid valve regurgitation - first trimester
    Parents markers:
    Cleft palateIntrauterine growth retardation (IUGR/SGA/FGR)
      Involved genes:
      (gene — definition — chromosome)      		ACTB — ACTIN, BETA — 7p22.1
      Inheritance mode:AD
      Other online databases:OrphaNet, OMIM
      References:
      2021 Eur J Med Genet Case report and review of literature Read on PubMed
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