Kleefstra syndrome 2

Summary
Definition
A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
Super Class
Kleefstra syndrome autosomal dominant disease
Disease Ontology
DOID:0080598
Mondo Disease Ontology
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
8085 KMT2D lysine methyltransferase 2D
58508 KMT2C lysine methyltransferase 2C

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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