| Metadata | |
|---|---|
| ID | DOID:0112204 |
| Name | developmental and 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. https://pubmed.ncbi.nlm.nih.gov/28364549/ |
| Xrefs | |
| Synonyms |
DEE68 [EXACT] early infantile epileptic encephalopathy 68 [EXACT] |
| Parent Relationships |