developmental and epileptic encephalopathy 51 (DOID:0080433)
Alliance: disease page
Synonyms: DEE51; early infantile epileptic encephalopathy 51
Alt IDs: OMIM:617339
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.