(Q32145508)

English

brachydactyly type B2

brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22

  • BDB2
  • BRACHYDACTYLY, TYPE B2; BDB2
  • BRACHYDACTYLY, TYPE B2

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