Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders

Variants in SMARCB1, encoding a core subunit of the BAF chromatin remodeling complex, are associated with intellectual developmental disorders, particularly Coffin-Siris Syndrome (CSS), though the genotype-phenotype spectrum remains incompletely defined. This study aims to assess correlations between SMARCB1 variant location and phenotypic manifestations.