OBO ID: DOID:0112207 |
Term Name: | developmental and epileptic encephalopathy 71 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/30575854/ | ||
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Ontology: | Human Disease ( DOID:0112207 ) |
OTHER developmental and epileptic encephalopathy 71 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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