| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |