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Metadata
ID	DOID:0080456
Name	developmental and epileptic encephalopathy 46
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/30280376/, https://www.ncbi.nlm.nih.gov/pubmed/27616483
Xrefs	OMIM:617162
Synonyms	DEE46 [EXACT] early infantile epileptic encephalopathy 46 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease