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Human Disease
developmental and epileptic encephalopathy 30
- Term ID
- DOID:0080465
- Synonyms
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- DEE30
- early infantile epileptic encephalopathy 30
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/25839329
- References
- Ontology
- Human Disease ( DOID:0080465 )
- is a type of
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