|OBO ID: DOID:0080419|
|Term Name:||developmental and epileptic encephalopathy 50||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/28007989|
|Ontology:||Human Disease (DOID:0080419)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 50 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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