a project of the German Society of Anesthesiology and Intensive Care Medicine

 
 

Folder de Barsy syndrome

Disease name: De Barsy syndrome
 
ICD 10: Q87.7; OMIM 614438
 
Synonyms: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy,Autosomal recessive cutis laxa Type 3
*With 2 gene subdivisions:
ARCL3A: caused by a ALDH18A1 mutation
ARCL3B: caused by a PYCR1 mutation


 

 

 

 


 

 

  • Submit a recommendation
  • Suggest a reviewer or author
  • Call us rare diseases
  • Send us interesting material