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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myoclonus epilepsy
Comorbidity C0456909|blindness
Sentences 1
PubMedID- 22956270 Similar to pediatric patients, the mice develop a rapidly progressive complex phenotype that includes ataxia, myoclonic seizures, strong retinopathy leading to blindness and additionally posture abnormalities and, later, infertility.

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