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Pretzel syndrome

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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 <ref<[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]</ref> Q17143464 at Wikidata  Interwiki via Wikidata