Coffin-Siris syndrome 12

Summary
Synonym
  • CSS12
Definition
A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
Super Class
Coffin-Siris syndrome
Disease Ontology
DOID:0112370
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29998 BICRA BRD4 interacting chromatin remodeling complex associated protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
243842 Bicra BRD4 interacting chromatin remodeling complex associated 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: December 9, 2024