Clark-Baraitser syndrome

Summary
Synonym
  • Baraitser syndrome
  • CLABARS
  • autosomal dominant intellectual disability 49
  • autosomal dominant mental retardation 49
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
Super Class
autosomal dominant intellectual developmental disorder
External Links
Disease Ontology
DOID:0080234
Mondo Disease Ontology
MeSH
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9320 TRIP12 thyroid hormone receptor interactor 12
Displaying 1 entry
Gene ID Gene Symbol Description Source
14897 Trip12 thyroid hormone receptor interactor 12

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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 19, 2024