autosomal dominant intellectual developmental disorder 54

Summary
Synonym
  • autosomal dominant mental retardation 54
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0080230
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
816 CAMK2B calcium/calmodulin dependent protein kinase II beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
12323 Camk2b calcium/calmodulin-dependent protein kinase II, beta

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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