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GENATLAS PHENOTYPE
last update : 03/10/2008
Symbol BDD
Location 2q31.1
Name brachydactyly type D/E
Other name(s) stub thumb
Corresponding gene HOXD13
Other symbol(s) BDE
Main clinical features
  • short and broad terminal phalanges of the thumbs and big toes
  • shortening of the fingers is mainly in the metacarpals and metatarsals
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s)