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early-onset epilepsy 3
Summary
- Synonym
-
- EPEO3
- 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.
- Super Class
- autosomal dominant disease epilepsy
External Links
- Disease Ontology
- DOID:0070472
- Mondo Disease Ontology
- OMIM
