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Human Disease
developmental and epileptic encephalopathy 83
- Term ID
- DOID:0112218
- Synonyms
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- DEE83
- early infantile epileptic encephalopathy 83
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/
- References
- Ontology
- Human Disease ( DOID:0112218 )
- is a type of
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