OBO ID: DOID:0080430 |
Term Name: | developmental and epileptic encephalopathy 65 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/29534297 | ||
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Ontology: | Human Disease ( DOID:0080430 ) |
OTHER developmental and epileptic encephalopathy 65 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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