Coffin-Siris syndrome 4

Summary
Synonym
  • CSS4
  • MRD16
  • autosomal dominant mental retardation 16
Definition
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Super Class
Coffin-Siris syndrome
Disease Ontology
DOID:0070046
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6597 SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
20586 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
854465 SNF2 SWI/SNF catalytic subunit SNF2

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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