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  • Pena shokeir syndrome type 1 Relevant markers:
    CamptodactylyChoroid plexus cyst (CPC)Clenched hand/sClubfootClubhandCryptoorchidismDepressed nasal bridgeDistal limbs anomaliesElbow pterygiaHypertelorismHypoplastic lung/sHypoplastic pulmonary arteryMicrognathia/retrognathiaOverlapping fingersPolyhydramniosPterygia of kneeScalp edemaShort neckUlnar deviationNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygroma
    Parents markers:
    Cleft palateContractures/arthrogryposisEarsFaceHeartThoraxLimbs
      Inheritance mode:AR
      Other online databases:OMIM
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