|OBO ID: DOID:0112219|
|Term Name:||developmental and epileptic encephalopathy 84||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14. https://pubmed.ncbi.nlm.nih.gov/32001716/|
|Ontology:||Human Disease (DOID:0112219)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 84 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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