Term Name: early-onset epilepsy 3
Synonyms: 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.
Ontology: Human Disease [DOID:0070472]   ( DOID:0070472 )

Relationships
is a type of: autosomal dominant disease epilepsy