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Human Disease
developmental and epileptic encephalopathy 45
- Term ID
- DOID:0080428
- Synonyms
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- DEE45
- early infantile epileptic encephalopathy 45
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (2)
- References
- Ontology
- Human Disease ( DOID:0080428 )
- is a type of
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