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GENATLAS PHENOTYPE
last update : 12-07-2013
Symbol LRLS
Location 11q12.3
Name Larsen like syndrome , B3GAT3 type
Other name(s) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Corresponding gene B3GAT3
Main clinical features
  • short stature and multiple congenital dislocations
  • congenital heart malformation, including mitrale valve prolapse, bicuspid aortic valve and ventricular septal defect
  • craniofacial dysmorphic features
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    osteo-articular
    Type disease
    Gene product
    Name beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    missense   abnormal protein/loss of function  
    Remark(s)