early-onset epilepsy 3

Term ID

DOID:0070472

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. (2)

References

• OMIM:620465

Ontology

Human Disease   ( DOID:0070472 )