Kleefstra syndrome

Summary
Definition
A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
Super Class
syndrome
Disease Ontology
DOID:0080597
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79813 EHMT1 euchromatic histone lysine methyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
77683 Ehmt1 euchromatic histone methyltransferase 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024