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Human Disease
developmental and epileptic encephalopathy 3
- Term ID
- DOID:0080440
- Synonyms
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- early infantile epileptic encephalopathy 3
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15592994
- References
- Ontology
- Human Disease ( DOID:0080440 )
- is a type of
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