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
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79813 EHMT1 euchromatic histone lysine methyltransferase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H9B1 Histone-lysine N-methyltransferase EHMT1

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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 8, 2025