blepharocheilodontic syndrome 2

Summary
Definition
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.
Super Class
blepharocheilodontic syndrome
Disease Ontology
DOID:0080346
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1500 CTNND1 catenin delta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12388 Ctnnd1 catenin delta 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