Term Name: | developmental and epileptic encephalopathy 31A |
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Synonyms: | DEE31, DEE31A, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0080437] ( DOID:0080437 ) |