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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tuberous sclerosis
Symptom C0035372|rett syndrome
Sentences 1
PubMedID- 22946725 They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the pcdh 19 gene.

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