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Human Disease
developmental and epileptic encephalopathy 48
- Term ID
- DOID:0080448
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/27889060
- References
- Ontology
- Human Disease ( DOID:0080448 )
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