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GENATLAS PHENOTYPE
last update : 18-04-2017
Symbol THCF
Location 5q31.1
Name tibial hemimelia and clubfoot
Corresponding gene PITX1
Main clinical features
  • asymmetric right-sided predominant idiopathic clubfoot, patellar hypoplasia, oblique talus, tibial hemimelia, developmental hip dysplasia, and preaxial polydactyly
  • club foot with deficiency of long bones and mirror-image polydactyly
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Remark(s)