Term Name: | developmental and epileptic encephalopathy 104 |
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Synonyms: | DEE104, early infantile epileptic encephalopathy 104 |
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. |
Ontology: | Human Disease [DOID:0070390] ( DOID:0070390 ) |