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  • DK phocomelia syndrome Relevant markers:
    Radial aplasiaRadial ray defectsHorseshoe kidneyAnal atresiaCongenital diaphragmatic hernia (CDH)Omphalocele
    Parents markers:
    PhocomeliaEncephaloceleCleft palateAmbiguous genitalia
      Inheritance mode:AD
      Other online databases:OMIM
      References:
      1994 Am J Med Genet Case report Read on PubMed
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