Clinical Spectrum of 15q11–q13 Duplication Syndrome: A Scoping Review of Neurodevelopmental and Multisystem Manifestations - Dataset

This dataset contains anonymized patient-level data extracted from published studies included in a PRISMA-ScR-compliant scoping review of Dup15q syndrome (15q11-q13 duplication syndrome). The dataset was developed to comprehensively characterize the phenotypic spectrum of Dup15q syndrome and includes demographic, genetic, neurodevelopmental, neurological, behavioral, psychiatric, dysmorphic, and systemic clinical features reported in the literature. Clinical variables were standardized using predefined classification criteria to harmonize heterogeneous terminology across publications. The dataset also includes information on duplication subtype (interstitial duplication or marker chromosome [idic15]), parental origin when reported, and molecular diagnostic methods. This dataset was used to perform descriptive analyses of the phenotypic spectrum, exploratory subgroup comparisons between duplication subtypes using odds ratios, and clinical phenotype co-occurrence network analyses. The dataset is intended to facilitate reproducible research, support future genotype–phenotype studies, and promote secondary analyses in rare disease research. Because the data were extracted from published reports, variable completeness depends on the information provided in the original studies. Clinical features not explicitly reported in the source publications were recorded according to the data extraction protocol described in the accompanying manuscript.