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developmental and epileptic encephalopathy 69
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112205
- Mondo Disease Ontology
- OMIM
