Term Name: | developmental and epileptic encephalopathy 21 |
---|---|
Synonyms: | DEE21, early infantile epileptic encephalopathy 21 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. |
Ontology: | Human Disease [DOID:0080443] ( DOID:0080443 ) |