OBO ID: DOID:0080432 |
Term Name: | developmental and epileptic encephalopathy 60 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. https://www.ncbi.nlm.nih.gov/pubmed/29394991 | ||
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Ontology: | Human Disease ( DOID:0080432 ) |
OTHER developmental and epileptic encephalopathy 60 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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