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Metadata
ID	DOID:0080433
Name	developmental and epileptic encephalopathy 51
Definition	A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/27989324
Xrefs	OMIM:617339
Synonyms	DEE51 [EXACT] early infantile epileptic encephalopathy 51 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease