The association between PRDM8 (PR/SET Domain 8) and Progressive Myoclonus Epilepsy 10 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources2
Clinical variants430
Symptoms0
Compounds0
Trials0
Publications1
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.