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Human Disease
developmental and epileptic encephalopathy 53
- Term ID
- DOID:0080464
- Synonyms
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- DEE53
- early infantile epileptic encephalopathy 53
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/27435091
- References
- Ontology
- Human Disease ( DOID:0080464 )
- is a type of
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