loading...| Preferred Name |
developmental and epileptic encephalopathy 4 |
| Synonyms |
DEE4 early infantile epileptic encephalopathy 4 |
| Definitions |
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080436 |
| database_cross_reference |
OMIM:612164 |
| definition |
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. |
| has exact synonym |
DEE4 early infantile epileptic encephalopathy 4 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080436 |
| label |
developmental and epileptic encephalopathy 4 |
| notation |
DOID:0080436 |
| prefLabel |
developmental and epileptic encephalopathy 4 |
| subClassOf |