Metadata | |
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ID | DOID:0080450 |
Name | developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/23993195 |
Xrefs | |
Synonyms |
DEE17 [EXACT] early infantile epileptic encephalopathy 17 [EXACT] |
Parent Relationships |