brachydactyly type A4

Summary
Synonym
  • BDA4
  • Temtamy type brachydactyly
  • brachymesophalangy II and V
Definition
A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.
Super Class
brachydactyly
Disease Ontology
DOID:0110967
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3239 HOXD13 homeobox D13
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P35453 Homeobox protein Hox-D13

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025