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Human Disease
developmental and epileptic encephalopathy 69
- Term ID
- DOID:0112205
- Synonyms
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- DEE69
- early infantile epileptic encephalopathy 69
- Definition
- A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/
- References
- Ontology
- Human Disease ( DOID:0112205 )
- is a type of
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