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Following extensive analysis, we recognized 30 individuals presenting with CCHS-8. In this study, non-polyalanine repeat mutations, (NPARMs) accounted for one instance, 21 cases were identified with polyalanine repeat mutations (PARMs), and one case had an unidentified mutation type. Genotype, the genetic blueprint of an organism, profoundly influences its physical traits. Patients presented with a median age of 25 months, with an inte
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