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Perisylvian syndrome MeSH Supplementary Concept Data 2025
An X-linked dominant malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Neuologic findings include mild intellectual disability, epilepsy, and PSEUDOBULBAR PALSY. OMIM: 300388