developmental and epileptic encephalopathy 68 (DOID:0112204)
Alliance: disease page
Synonyms: DEE68; early infantile epileptic encephalopathy 68
Alt IDs: OMIM:618201
Definition: A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.