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Human Disease
developmental and epileptic encephalopathy 87
- Term ID
- DOID:0112221
- Synonyms
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- DEE87
- early infantile epileptic encephalopathy 87
- Definition
- A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/32330417/
- References
- Ontology
- Human Disease ( DOID:0112221 )
- is a type of
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