autosomal dominant intellectual developmental disorder

Summary
Synonym
  • autosomal dominant mental retardation
  • autosomal dominant non-syndromic mental retardation
Definition
A intellectual disability characterized by an autosomal dominant inheritance pattern.
Super Class
autosomal dominant disease intellectual disability
Disease Ontology
DOID:0060307
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
818 CAMK2G calcium/calmodulin dependent protein kinase II gamma
1173 AP2M1 adaptor related protein complex 2 subunit mu 1
2890 GRIA1 glutamate ionotropic receptor AMPA type subunit 1
3183 HNRNPC heterogeneous nuclear ribonucleoprotein C
6418 SET SET nuclear proto-oncogene
6874 TAF4 TATA-box binding protein associated factor 4
7204 TRIO trio Rho guanine nucleotide exchange factor
9757 KMT2B lysine methyltransferase 2B
9969 MED13 mediator complex subunit 13
11011 TLK2 tousled like kinase 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: April 7, 2025