OBO ID: DOID:0112275 |
Term Name: | developmental and epileptic encephalopathy 93 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. https://pubmed.ncbi.nlm.nih.gov/29668857/ | ||
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Ontology: | Human Disease ( DOID:0112275 ) |
OTHER developmental and epileptic encephalopathy 93 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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