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Human Disease
developmental and epileptic encephalopathy 115
- Term ID
- DOID:0051087
- Synonyms
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- Definition
- A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/38423010/
- References
- Ontology
- Human Disease ( DOID:0051087 )
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Zebrafish Models