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GENATLAS PHENOTYPE
last update : 03-11-2009
Symbol MFSV
Location 7q21.3
Name Marfan syndrome variant
Corresponding gene COL1A2
Main clinical features
  • equinovarus deformities of both feet at birth, arachnodactyly and lumbar scoliosis, aortic and mitral regurgitation with dilated root of the aorta , no lens dislocation, mild pectus carinatum as well as long slender limbs with increased mobility in all joints
  • Genetic determination
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name collagen type I, alpha 2 (COL1A2)
    Remark(s) R618Q substitution in COL1A2