Term Name: | developmental and epileptic encephalopathy 48 |
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Synonyms: | DEE48, early infantile epileptic encephalopathy 48 |
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. |
Ontology: | Human Disease [DOID:0080448] ( DOID:0080448 ) |