developmental and epileptic encephalopathy 46 (DOID:0080456)
Alliance: disease page
Synonyms: DEE46; early infantile epileptic encephalopathy 46
Alt IDs: OMIM:617162
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.