autosomal dominant intellectual developmental disorder 43

Summary
Synonym
  • MRD43
  • autosomal dominant mental retardation 43
  • autosomal dominant non-syndromic intellectual disability 43
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070073
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3097 HIVEP2 HIVEP zinc finger 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
15273 Hivep2 human immunodeficiency virus type I enhancer binding protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
29721 Hivep2 HIVEP zinc finger 2

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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