developmental and epileptic encephalopathy 104 (DOID:0070390)
Alliance: disease page
Synonyms: DEE104; early infantile epileptic encephalopathy 104
Alt IDs: OMIM:619970
Definition: A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.