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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease rett syndrome
Comorbidity C0037769|infantile spasms
Sentences 1
PubMedID- 22867051 Background: mutations in the cyclin-dependent kinase-like 5 gene (cdkl5) located in the xp22 region have been shown to cause a subset of atypical rett syndrome with infantile spasms or early seizures starting in the first postnatal months.

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