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Human Disease
developmental and epileptic encephalopathy 17
- Term ID
- DOID:0080450
- Synonyms
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- DEE17
- early infantile epileptic encephalopathy 17
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/23993195
- References
- Ontology
- Human Disease ( DOID:0080450 )
- is a type of
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