Unique, single variant mutation.
The phenotype characterized with: varying degree of cerebellar dysgenesis and facial dysmorphism, intellectual disability from mild to severe with or without autism and neonatal epilepsy of different types. Learn more.
Our research foundation aims to drive treatment development for PACS2 syndrome.
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Among ca. 100 known cases around the globe, there are many similarities but each case is different in its own way. Discover our stories.