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Metadata
ID	DOID:0112218
Name	developmental and epileptic encephalopathy 83
Definition	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/
Xrefs	OMIM:618744
Synonyms	DEE83 [EXACT] early infantile epileptic encephalopathy 83 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease