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Human Disease
developmental and epileptic encephalopathy 54
- Term ID
- DOID:0080418
- Synonyms
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- DEE54
- early infantile epileptic encephalopathy 54
- Definition
- A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/27652284
- References
- Ontology
- Human Disease ( DOID:0080418 )
- is a type of
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