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Human Diseases (thesaurus)

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Concept information

Terme préférentiel

DiGeorge syndrome  

Définition

  • DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. (Wikipedia)

Synonyme(s)

  • velocardiofacial syndrome

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-N0JB9FMQ-0

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