Homo sapiens Raw sequence reads
This study aims to characterize the clinical and genetic features of Floating Harbor syndrome (FLHS) in a family with two affected individuals. Whole-exome sequencing was performed to identify the underlying genetic cause and to explore potential genotype-phenotype correlations. The identification of a SRCAP truncating variant along with novel clinical manifestations, including polydactyly and syndactyly, expands the known phenotypic spectrum of FLHS and provides insights into its clinical heterogeneity. The findings contribute to better diagnosis and management of this rare neurodevelopmental disorder.