OBO ID: DOID:0080446 |
Term Name: | developmental and epileptic encephalopathy 66 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/29656858 | ||
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Ontology: | Human Disease ( DOID:0080446 ) |
OTHER developmental and epileptic encephalopathy 66 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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