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Human Disease
developmental and epileptic encephalopathy 19
- Term ID
- DOID:0080431
- Synonyms
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- DEE19
- early infantile epileptic encephalopathy 19
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24623842
- References
- Ontology
- Human Disease ( DOID:0080431 )
- is a type of
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