Search Ontology:
Human Disease
developmental and epileptic encephalopathy 120
- Term ID
- DOID:0051089
- Synonyms
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- Definition
- A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/41133935/
- References
- Ontology
- Human Disease ( DOID:0051089 )
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Genes Involved
Zebrafish Models