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Human Disease
developmental and epileptic encephalopathy 100
- Term ID
- DOID:0070386
- Synonyms
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- DEE100
- early infantile epileptic encephalopathy 100
- Definition
- A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/33280099/
- References
- Ontology
- Human Disease ( DOID:0070386 )
- is a type of
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