ZTTK syndrome is an ultrarare neurodevelopmental disorder, that was only discovered in 2016. There are only 50+ patients identified in the scientific literature today and no known treatments/cures

All documented cases of ZTTK syndrome are de novo mutation resulting in haploinsufficiency, with a complex and highly varied multi-system phenotype. The most prevalent symptoms include global developmental delay (gross motor, feeding, and speech delays), intellectual disability, and seizures (~50% of the known population) 

ZTTK SON-Shine Foundation

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ZTTK SON-Shine Foundation

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