Term Name: developmental and epileptic encephalopathy 68
Synonyms: DEE68, early infantile epileptic encephalopathy 68
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.
Ontology: Human Disease [DOID:0112204]   ( DOID:0112204 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy