autosomal dominant intellectual developmental disorder 53

Summary
Synonym
  • autosomal dominant mental retardation 53
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0080228
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
815 CAMK2A calcium/calmodulin dependent protein kinase II alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
12322 Camk2a calcium/calmodulin-dependent protein kinase II alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
25400 Camk2a calcium/calmodulin-dependent protein kinase II alpha

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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