OBO ID: DOID:0080425 |
Term Name: | developmental and epileptic encephalopathy 47 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (2) | ||
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Ontology: | Human Disease ( DOID:0080425 ) |
OTHER developmental and epileptic encephalopathy 47 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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