syndactyly type 1

Summary
Synonym
  • SDTY1
  • chromosome 2q35 duplication syndrome
  • syndactyly, type 1, with or without craniosynostosis
Definition
A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
Super Class
autosomal dominant disease chromosomal duplication syndrome syndactyly
Disease Ontology
DOID:0111816
Mondo Disease Ontology
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3549 IHH Indian hedgehog signaling molecule
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14623 Indian hedgehog protein

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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