OBO ID: DOID:0111449 |
Term Name: | progressive myoclonus epilepsy 6 | Search Ontology: | |
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Definition: | A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. https://www.ncbi.nlm.nih.gov/pubmed/21549339 | ||
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Ontology: | Human Disease ( DOID:0111449 ) |
OTHER progressive myoclonus epilepsy 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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