Its genetic basis relies on c.-3279T > G polymorphism (UGT1A1*60), which reduces gene transcription by approximately 40%, and is highly prevalent in Asian populations.<h4>Aims</h4>This study aimed to profile the genetic, biochemical, and clinical characteristics of individuals with clinical features of GS in Nepal and examine correlations between UGT1A1 genotypes and hematological parameters.<h4>Methods</h4>This study utilized a prospective descriptive design supplemented by a retrospective review of medical records, including 75 patients with isolated unconjugated hyperbilirubinemia. This evidence concerns the gene UGT1A1 and Gerstmann syndrome.