Metadata | |
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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 |