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Brachydactyly type D
rareA brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.
- Identifiers
- MONDO:0007222 OMIM:113200Orphanet:93385
- Causal genes
- HOXD13
- Part of
- Brachydactyly
- Also known as
- BDD · brachydactyly, type D
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