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Metadata
ID	DOID:0080431
Name	developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/24623842
Xrefs	OMIM:615744
Synonyms	DEE19 [EXACT] early infantile epileptic encephalopathy 19 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease