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Cornelia de Lange syndrome 6

Summary
Definition
A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.
Super Class
Cornelia de Lange syndrome autosomal dominant disease
Disease Ontology
DOID:0060970
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23476 BRD4 bromodomain containing 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O60885 Bromodomain-containing protein 4
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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: August 4, 2025