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Metadata
ID	DOID:0080444
Name	developmental and epileptic encephalopathy 27
Definition	A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. https://www.ncbi.nlm.nih.gov/pubmed/24272827, https://www.ncbi.nlm.nih.gov/pubmed/28377535
Xrefs	MIM:616139
Synonyms	DEE27 [EXACT] early infantile epileptic encephalopathy 27 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease