OBO ID: DOID:0111445 |
Term Name: | progressive myoclonus epilepsy 10 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/22961547 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111445 ) |
OTHER progressive myoclonus epilepsy 10 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.