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 )