developmental and epileptic encephalopathy 61

Summary
Synonym
  • DEE61
  • early infantile epileptic encephalopathy 61
Definition
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080434
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
53616 ADAM22 ADAM metallopeptidase domain 22
Related Glycoprotein

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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: April 7, 2025