| Metadata | |
|---|---|
| ID | DOID:0070389 |
| Name | developmental and epileptic encephalopathy 103 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/35314505/ |
| Xrefs | |
| Synonyms |
DEE103 [EXACT] early infantile epileptic encephalopathy 103 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |