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Human Disease
developmental and epileptic encephalopathy 31A
- Term ID
- DOID:0080437
- Synonyms
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- DEE31
- DEE31A
- developmental and epileptic encephalopathy 31
- early infantile epileptic encephalopathy 31
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (2)
- References
- Ontology
- Human Disease ( DOID:0080437 )
- is a type of
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