WormBase Tree Display for DO_term: DOID:0080450
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| DOID:0080450 | Name | developmental and epileptic encephalopathy 17 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | DEE17 | |||
| early infantile epileptic encephalopathy 17 | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 615473 | |
| Attribute_of | Gene_by_orthology | WBGene00001648 |
