| Metadata | |
|---|---|
| ID | DOID:0051084 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051084 Copy |
| Name | developmental and epileptic encephalopathy 112 |
| Definition | A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. https://pubmed.ncbi.nlm.nih.gov/36307226/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |