Unveiling a Rare Genetic Variation: A Case Report on Rett Syndrome in a Male Patient with Atypical Presentation

Genetic variations play a significant role in human health and disease. In this case report, we present the clinical profile of a patient with a rare genetic variation and discuss its implications for diagnosis, treatment, and genetic counseling. The identification and understanding of genetic variations are crucial in personalized medicine and can lead to improved patient outcomes. This case highlights the importance of genetic testing in clinical practice and the need for comprehensive evaluation when encountering patients with atypical presentations.