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Human Disease

developmental and epileptic encephalopathy 31A

Term ID
DOID:0080437
Synonyms
  • DEE31
  • DEE31A
  • developmental and epileptic encephalopathy 31
  • early infantile epileptic encephalopathy 31
Definition
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (2)
References
Ontology
Human Disease   ( DOID:0080437 )
Relationships
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Genes Involved
Zebrafish Models