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developmental and epileptic encephalopathy 19
Summary
- Synonym
-
- DEE19
- early infantile epileptic encephalopathy 19
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080431
- Mondo Disease Ontology
- OMIM
Related Genes
