Clinical and molecular insights into primary ciliary dyskinesia: Genotype-phenotype correlation and protein interaction networks in an Indian retrospective cohort

ABSTRACT Background and Objective: Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing defective ciliary motility, leading to chronic respiratory disease, neonatal distress, subfertility, and laterality defects. This study examines the clinical and genetic spectrum of PCD in a South Asian cohort, focusing on genotype–phenotype correlations, protein interaction effects of pathogenic variants, and the role of bioinformatics in improving molecular diagnosis.