OBO ID: DOID:0080433 |
Term Name: | developmental and epileptic encephalopathy 51 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/27989324 | ||
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Ontology: | Human Disease ( DOID:0080433 ) |
OTHER developmental and epileptic encephalopathy 51 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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