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Human Disease
developmental and epileptic encephalopathy 18
- Term ID
- DOID:0080413
- Synonyms
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- DEE18
- early infantile epileptic encephalopathy 18
- Definition
- A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/23932106
- References
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- GARD:13676
- MIM:615476
- Ontology
- Human Disease ( DOID:0080413 )
- is a type of
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Zebrafish Models