syndactyly type 3

Summary
Synonym
  • SDTY3
  • ringand little finger syndactyly
  • syndactyly of fingers 4 and 5
  • syndactyly, type III
Definition
A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.
Super Class
autosomal dominant disease syndactyly
Disease Ontology
DOID:0111817
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14609 Gja1 gap junction protein, alpha 1

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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: December 9, 2024