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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease rett syndrome
Comorbidity C0041341|tuberous sclerosis
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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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