| Metadata | |
|---|---|
| ID | DOID:0080436 |
| Name | developmental and epileptic encephalopathy 4 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18469812, https://pubmed.ncbi.nlm.nih.gov/19557857/ |
| Xrefs | |
| Synonyms |
DEE4 [EXACT] early infantile epileptic encephalopathy 4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |