OBO ID: DOID:0112215 |
Term Name: | developmental and epileptic encephalopathy 79 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (2) | ||
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Ontology: | Human Disease ( DOID:0112215 ) |
OTHER developmental and epileptic encephalopathy 79 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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