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Metadata
ID	DOID:0080715
Name	developmental and epileptic encephalopathy 82
Definition	A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31422819/
Xrefs	OMIM:618721
Synonyms	DEE82 [EXACT] early infantile epileptic encephalopathy 82 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease