developmental and epileptic encephalopathy 53 (DOID:0080464)
Alliance: disease page
Synonyms: DEE53; early infantile epileptic encephalopathy 53
Alt IDs: OMIM:617389
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.