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Disease Ontology Browser
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 TRAK1 on chromosome 3p22.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory