Term Name: | developmental and epileptic encephalopathy 17 |
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Synonyms: | DEE17, early infantile epileptic encephalopathy 17 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. |
Ontology: | Human Disease [DOID:0080450] ( DOID:0080450 ) |