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Human Disease
developmental and epileptic encephalopathy 21
- Term ID
- DOID:0080443
- Synonyms
-
- DEE21
- early infantile epileptic encephalopathy 21
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (2)
- References
- Ontology
- Human Disease ( DOID:0080443 )
- is a type of
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