|OBO ID: DOID:0080448|
|Term Name:||developmental and epileptic encephalopathy 48||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/27889060|
|Ontology:||Human Disease (DOID:0080448)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 48 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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