|OBO ID: DOID:0080433|
|Term Name:||developmental and epileptic encephalopathy 51||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0080433)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 51 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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