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developmental and epileptic encephalopathy 17
Summary
- Synonym
-
- DEE17
- early infantile epileptic encephalopathy 17
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080450
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
