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Human Disease
developmental and epileptic encephalopathy 28
- Term ID
- DOID:0080452
- Synonyms
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- DEE28
- early infantile epileptic encephalopathy 28
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (2)
- References
- Ontology
- Human Disease ( DOID:0080452 )
- is a type of
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