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Metadata
ID	DOID:0080463
Name	developmental and epileptic encephalopathy 33
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23033978
Xrefs	MIM:616409
Synonyms	DEE33 [EXACT] early infantile epileptic encephalopathy 33 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease