DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 53

Early infantile epileptic encephalopathy 53 [DOID:0080464]

An early infantile 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:  early infantile epileptic encephalopathy 53,  DOID:0080464