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Pretzel syndrome
Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs [1]
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Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
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- ↑ [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]