loading...| Preferred Name |
developmental and epileptic encephalopathy 59 |
| Synonyms |
DEE59 early infantile epileptic encephalopathy 59 |
| Definitions |
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080291 |
| database_cross_reference |
OMIM:617904 |
| definition |
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. |
| has exact synonym |
DEE59 early infantile epileptic encephalopathy 59 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080291 |
| label |
developmental and epileptic encephalopathy 59 |
| notation |
DOID:0080291 |
| prefLabel |
developmental and epileptic encephalopathy 59 |
| subClassOf |