OBO ID: DOID:0112206 |
Term Name: | developmental and epileptic encephalopathy 70 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. https://pubmed.ncbi.nlm.nih.gov/30256902/ | ||
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Ontology: | Human Disease ( DOID:0112206 ) |
OTHER developmental and epileptic encephalopathy 70 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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