autosomal recessive intellectual developmental disorder 38

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081203
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8924 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
15204 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 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: August 19, 2024