Add ...
Login to search by marker and hierarchy!
  • 6pter-p24 deletion syndrome Relevant markers:
    Broad big toeBroad thumbBulbous nasal tipDandy Walker malformationDepressed nasal bridgeFlat nasal bridgeHypertelorismLow set ear/sMicrognathia/retrognathiaMidface/maxillary hypoplasiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaTetralogy of Fallot (TOF)Turricephaly
    Parents markers:
    Cleft lipCleft palatePyelectasis/hydronephrosisVentricular septal defect (VSD)
      Involved genes:
      (gene — definition — chromosome)      		6pter-p24
      Inheritance mode:Sporadic (new mutation)
      Other online databases:OMIM
      References:
      2005 Am J Med Genet A 4 Cases Read on PubMed
      2015 Genet Couns Case report Read on PubMed
      Login for more details.