OBO ID: DOID:0112208 |
Term Name: | developmental and epileptic encephalopathy 72 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/30323019/ | ||
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Ontology: | Human Disease ( DOID:0112208 ) |
OTHER developmental and epileptic encephalopathy 72 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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