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Human Disease

developmental and epileptic encephalopathy 58

Term ID
DOID:0080285
Synonyms
  • DEE58
  • early infantile epileptic encephalopathy 58
Definition
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/29100083
References
Ontology
Human Disease   ( DOID:0080285 )
Relationships
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Genes Involved
Zebrafish Models