Term Name: | developmental and epileptic encephalopathy 69 |
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Synonyms: | DEE69, early infantile epileptic encephalopathy 69 |
Definition: | A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. |
Ontology: | Human Disease [DOID:0112205] ( DOID:0112205 ) |