brachydactyly type A1


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brachydactyly type A1

An autosomal dominant OMIM 112500 condition characterised by brachydactyly of the middle phalanges, including short or absent phalanges, short metacarpal bones, hypoplastic or absent ulna and accessory ossification centres.

Molecular pathology
Mutations in IHH (located on chromosome 2q35) and BDA1B (located on 5p13.3-p13.2).
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