Human genes for developmental and epileptic encephalopathy 53
Developmental and epileptic encephalopathy 53 [DOID:0080464]
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.
Synonyms: developmental and epileptic encephalopathy 53, DOID:0080464, DEE53, early infantile epileptic encephalopathy 53