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Standards Ontologies Notations
developmental and epileptic encephalopathy 73

Summary
Synonym
  • DEE73
  • early infantile epileptic encephalopathy 73
Definition
A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0112209
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11342 RNF13 ring finger protein 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
24017 Rnf13 ring finger protein 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
681578 Rnf13 ring finger protein 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
40791 gzl godzilla E3 ubiquitin protein ligase
Displaying 1 entry
Gene ID Gene Symbol Description Source
181600 C18B12.4 RING-type domain-containing protein
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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