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Human Disease
developmental and epileptic encephalopathy 47
- Term ID
- DOID:0080425
- Synonyms
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- DEE47
- early infantile epileptic encephalopathy 47
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (2)
- References
- Ontology
- Human Disease ( DOID:0080425 )
- is a type of
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