syndromic intellectual disability

Summary
Definition
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
Super Class
intellectual disability
Disease Ontology
DOID:0050888
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
1859 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A
2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
4983 OPHN1 oligophrenin 1
5702 PSMC3 proteasome 26S subunit, ATPase 3
7862 BRPF1 bromodomain and PHD finger containing 1
10129 FRY FRY microtubule binding protein
10765 KDM5B lysine demethylase 5B
23613 ZMYND8 zinc finger MYND-type containing 8
26053 AUTS2 activator of transcription and developmental regulator AUTS2
27339 PRPF19 pre-mRNA processing factor 19
Displaying all 8 entries
Gene ID Gene Symbol Description Source
13549 Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b
14056 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit
28000 Prpf19 pre-mRNA processing factor 19
56317 Anapc7 anaphase promoting complex subunit 7
208266 Dot1l DOT1 like histone lysine methyltransferase
216439 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
228880 Zmynd8 zinc finger, MYND-type containing 8
320365 Fry FRY microtubule binding protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32547 tay tay bridge
32771 mnb minibrain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024