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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lethal osteosclerotic bone dysplasia
Comorbidity C0004134|ataxia
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PubMedID- 20186955 In patients, the s218l cacna1a mutation causes a dramatic hemiplegic migraine syndrome that is associated with ataxia, seizures, and severe, sometimes fatal, brain edema often triggered by only a mild head trauma.

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