Term Name: | developmental and epileptic encephalopathy 53 |
---|---|
Synonyms: | DEE53, early infantile epileptic encephalopathy 53 |
Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. |
Ontology: | Human Disease [DOID:0080464] ( DOID:0080464 ) |