Genotype-phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in the TSC1 and TSC2 genes. This condition manifests as diverse symptoms across multiple organ systems and is frequently associated with neuropsychiatric symptoms. However, the relationship between the severity of these manifestations remains poorly understood. This study aimed to elucidate correlations between the severity of various skin and neuropsychiatric symptoms and the underlying TSC1/TSC2 gene pathology.