syndromic X-linked intellectual disability

Summary
Synonym
  • syndromic X-linked mental retardation
Definition
A syndromic intellectual disability characterized by an X-linked inheritance pattern.
Super Class
X-linked monogenic disease syndromic intellectual disability
Disease Ontology
DOID:0060309
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
1654 DDX3X DEAD-box helicase 3 X-linked
5253 PHF2 PHD finger protein 2
7543 ZFX zinc finger protein X-linked
8573 CASK calcium/calmodulin dependent serine protein kinase
10075 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
23133 PHF8 PHD finger protein 8
79576 NKAP NFKB activating protein
170302 ARX aristaless related homeobox
Displaying all 3 entries
Gene ID Gene Symbol Description Source
59026 Huwe1 HECT, UBA and WWE domain containing 1
270627 Taf1 TATA-box binding protein associated factor 1
320595 Phf8 PHD finger protein 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
41104 ATP6AP2 ATPase H+ transporting accessory protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
853191 TAF1 histone acetyltransferase

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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