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Human Disease
developmental and epileptic encephalopathy 63
- Term ID
- DOID:0080426
- Synonyms
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- DEE63
- early infantile epileptic encephalopathy 63
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (2)
- References
- Ontology
- Human Disease ( DOID:0080426 )
- is a type of
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