| Metadata | |
|---|---|
| ID | DOID:0070472 |
| Name | early-onset epilepsy 3 |
| Definition | An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/37161035/, https://pubmed.ncbi.nlm.nih.gov/36074901/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620465 |
| Synonyms |
EPEO3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a epilepsy |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal dominant inheritance |