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Human Disease
developmental and epileptic encephalopathy 76
- Term ID
- DOID:0112212
- Synonyms
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- DECAM
- DEE76
- developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination
- early infantile epileptic encephalopathy 76
- Definition
- A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/31031012/
- References
- Ontology
- Human Disease ( DOID:0112212 )
- is a type of
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Zebrafish Models