| Metadata | |
|---|---|
| ID | DOID:0080440 |
| Name | developmental and epileptic encephalopathy 3 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15592994 |
| Xrefs | |
| Synonyms |
early infantile epileptic encephalopathy 3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |