OBO ID: DOID:0080285
Term Name: developmental and epileptic encephalopathy 58 Search Ontology:
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
is a type of:
OTHER developmental and epileptic encephalopathy 58 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NTRK2 Developmental and epileptic encephalopathy 58 617830
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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