OBO ID: DOID:0112210 |
Term Name: | developmental and epileptic encephalopathy 74 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. https://pubmed.ncbi.nlm.nih.gov/27864268/ | ||
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Ontology: | Human Disease ( DOID:0112210 ) |
OTHER developmental and epileptic encephalopathy 74 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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