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GENATLAS PHENOTYPE
last update : 13-04-2010
Symbol BDE2
Location 12p11
Name brachydactyly type E2, with short stature
Corresponding gene PTHLH
Main clinical features
  • shortening of the metacarpals, metatarsals, and phalanges in hands and feet with the fourth and fifth metacarpals being most frequently and most severely affected
  • in addition, associated with short stature, and hypoplastic middle and distal phalanges in severe cases
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)