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GENATLAS PHENOTYPE
last update : 27-08-2012
Symbol OI5
Location 11p15.5
Name Osteogenesis imperfecta type 5
Corresponding gene IFITM5
Main clinical features
  • osteogenesis moderately deforming and with moderate to severe bone fragility of long bones and vertebral bodies
  • absence of blue sclera, absence of dentinogenesis imperfecta, propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocation, and a subphyseal metaphyseal radiodense line
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s)