Term Name:	developmental and epileptic encephalopathy 51
Synonyms:	DEE51, early infantile 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.
Ontology:	Human Disease [DOID:0080433]   ( DOID:0080433 )