autosomal recessive intellectual developmental disorder 5

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.
Super Class
autosomal recessive intellectual developmental disorder
Disease Ontology
DOID:0081181
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54888 NSUN2 NOP2/Sun RNA methyltransferase 2

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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