OBO ID: DOID:0080426 |
Term Name: | developmental and epileptic encephalopathy 63 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (2) | ||
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Ontology: | Human Disease ( DOID:0080426 ) |
OTHER developmental and epileptic encephalopathy 63 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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