| Metadata | |
|---|---|
| ID | DOID:0112205 |
| Name | developmental and epileptic encephalopathy 69 |
| Definition | A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/ |
| Xrefs | |
| Synonyms |
DEE69 [EXACT] early infantile epileptic encephalopathy 69 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |