developmental and epileptic encephalopathy 81

Summary
Synonym
  • DEE81
  • early infantile epileptic encephalopathy 81
Definition
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0112217
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23312 DMXL2 Dmx like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
235380 Dmxl2 Dmx-like 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