| Metadata | |
|---|---|
| ID | DOID:0080421 |
| Name | developmental and epileptic encephalopathy 11 |
| Definition | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/19786696 |
| Xrefs | |
| Synonyms |
DEE11 [EXACT] early infantile epileptic encephalopathy 11 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |