OBO ID: DOID:0112204 |
Term Name: | developmental and epileptic encephalopathy 68 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112204 ) |
OTHER developmental and epileptic encephalopathy 68 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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