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Rare genetic diseases, as the name suggests, are rare. Collectively, however, this “rarity” is an illusion, with an estimated 6,000 to 10,000 different rare diseases affecting up to 8% of the world’s population. Essentially, this phenomenon impacts us all, either directly or indirectly.

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10.11.2025

- 10.11.2028

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SynGAP1-related neurodevelopmental disorders are an example of a rare disease in urgent need of our attention. Diagnosis of this disease, manifesting in early childhood, is challenging due to its diverse symptoms including epilepsy, autism, and intellectual disabilities. Despite its rarity (6:100,000 prevalence), it may cause 2–8% of all intellectual disabilities worldwide.

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