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Metadata
ID	DOID:0080436
Name	developmental and epileptic encephalopathy 4
Definition	A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. https://pubmed.ncbi.nlm.nih.gov/19557857/, https://www.ncbi.nlm.nih.gov/pubmed/18469812
Xrefs	MIM:612164
Synonyms	DEE4 [EXACT] early infantile epileptic encephalopathy 4 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease