autosomal dominant intellectual developmental disorder 6

Summary
Synonym
  • MRD6
  • autosomal dominant mental retardation 6
  • autosomal dominant non-syndromic intellectual disability 6
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.
Super Class
autosomal dominant intellectual developmental disorder
External Links
Disease Ontology
DOID:0070036
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2904 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B
Displaying 1 entry
Gene ID Gene Symbol Description Source
14812 Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Displaying 1 entry
Gene ID Gene Symbol Description Source
24410 Grin2b glutamate ionotropic receptor NMDA type subunit 2B

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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