OBO ID: DOID:0080438 |
Term Name: | developmental and epileptic encephalopathy 5 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457 | ||
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Ontology: | Human Disease ( DOID:0080438 ) |
OTHER developmental and epileptic encephalopathy 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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