OBO ID: DOID:0080448 |
Term Name: | developmental and epileptic encephalopathy 48 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080448 ) |
OTHER developmental and epileptic encephalopathy 48 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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