Term Name: developmental and epileptic encephalopathy 46
Synonyms: DEE46, early infantile epileptic encephalopathy 46
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.
Ontology: Human Disease [DOID:0080456]   ( DOID:0080456 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy