OBO ID: DOID:0111446 |
Term Name: | progressive myoclonus epilepsy 3 | Search Ontology: | |
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Definition: | A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. (2) | ||
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Ontology: | Human Disease ( DOID:0111446 ) |
OTHER progressive myoclonus epilepsy 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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