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Term ID: | 15587 |
Name: | rolandic epilepsy-speech dyspraxia syndrome |
Definition: | Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. |
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OMIM: MSeqDR : Genes: | Phenotypes | | Disease Causing ClinVar Variants | | MSeqDR Portal | |
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