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Posteriorly placed tongue

MedGen UID:
870167
•Concept ID:
C4024600
•
Anatomical Abnormality
HPO: HP:0009087

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Posteriorly placed tongue

Conditions with this feature

Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
MedGen UID:
395493
•Concept ID:
C1860471
•
Disease or Syndrome
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).
See: Condition Record
Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

Recent clinical studies

Prognosis

A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.
Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, Bannasch DL
PLoS Genet 2014 Apr;10(4):e1004257. Epub 2014 Apr 3 doi: 10.1371/journal.pgen.1004257. PMID: 24699068Free PMC Article

Clinical prediction guides

A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.
Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, Bannasch DL
PLoS Genet 2014 Apr;10(4):e1004257. Epub 2014 Apr 3 doi: 10.1371/journal.pgen.1004257. PMID: 24699068Free PMC Article

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

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    • Posteriorly placed tongue
      Posteriorly placed tongue
      MedGen
    • PDZ Domains
      PDZ Domains
      Protein interaction domains of about 70-90 amino acid residues, named after a common structure found in PSD-95, Discs Large, and Zona Occludens 1 proteins. PDZ domains are inv...<br/>Year introduced: 2008
      MeSH
    • LOC652005 [Homo sapiens]
      LOC652005 [Homo sapiens]
      Gene ID:652005
      Gene

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