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Human Disease
developmental and epileptic encephalopathy 68
- Term ID
- DOID:0112204
- Synonyms
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- DEE68
- early infantile epileptic encephalopathy 68
- Definition
- A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/28364549/
- References
- Ontology
- Human Disease ( DOID:0112204 )
- is a type of
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