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GENATLAS PHENOTYPE
last update : 18-11-2019
Symbol OIXVIII
Location 6q14.1
Name osteogenesis imperfecta, type XVIII
Corresponding gene TENT5A
Main clinical features
  • congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life
  • dysmorphic features included high broad forehead, long eyelashes, wide palpebral fissures, blue sclerae, grooved philtrum, broad nasal root, and micrognathia
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)