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Human Disease
developmental and epileptic encephalopathy 79
- Term ID
- DOID:0112215
- Synonyms
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- DEE79
- early infantile epileptic encephalopathy 79
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (2)
- References
- Ontology
- Human Disease ( DOID:0112215 )
- is a type of
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