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GENATLAS PHENOTYPE
last update : 13-05-2009
Symbol BDA2
Location 4q22-q24
Name brachydactyly type A2, locus A2
Corresponding gene BMPR1B
Main clinical features
  • shortening and lateral deviation of the index fingers
  • characterized by hypoplastic middle phalanges of the second and fifth fingers
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name bone morphogenetic protein receptor, type IB
    Remark(s)