Term Name: | developmental and epileptic encephalopathy 68 |
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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 ) |