OBO ID: DOID:0080440 |
Term Name: | developmental and epileptic encephalopathy 3 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15592994 | ||
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Ontology: | Human Disease ( DOID:0080440 ) |
OTHER developmental and epileptic encephalopathy 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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