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Early-Onset Epilepsy 3

Disease ID: disease_node_19679

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DbxrefMIM:620465
SubclassofDOID_0050736, DOID_1826
Data SourceDOID
SynonymsEPEO3
Doid Labelearly-onset epilepsy 3
Doid DescriptionAn 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19679
Doid IdDOID_0070472
LabelEarly-Onset Epilepsy 3