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GENATLAS PHENOTYPE
last update : 02-11-2010
Symbol RAI
Location 19p13.11
Name right atrial isomerism
Corresponding gene GDF1
Main clinical features
  • heterotaxy syndrome with disturbances in the left–right axis development
  • includes complex heart malformations with anomalous pulmonary venous drainage, a common atrium, univentricular AV connection, malposition of great arteries and severe pulmonary outflow tract obstruction or atresia
  • often associated with asplenia
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    digestive tract/liver and annex
    defense and immunity
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)