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Human Disease
developmental and epileptic encephalopathy 46
- Term ID
- DOID:0080456
- Synonyms
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- DEE46
- early infantile epileptic encephalopathy 46
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (2)
- References
- Ontology
- Human Disease ( DOID:0080456 )
- is a type of
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