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Human Disease
developmental and epileptic encephalopathy 101
- Term ID
- DOID:0070387
- Synonyms
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- DEE101
- early infantile epileptic encephalopathy 101
- Definition
- A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/34611970/
- References
- Ontology
- Human Disease ( DOID:0070387 )
- is a type of
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