|OBO ID: DOID:0112217|
|Term Name:||developmental and epileptic encephalopathy 81||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2. (2)|
|Ontology:||Human Disease (DOID:0112217)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 81 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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