Sequencing patients’ genomes is necessary for understanding the genetic basis of diseases and facilitating their diagnosis. New-generation sequencing tools revolutionized human genome sequencing by reducing expenses and duration for correct diagnosis. By increasing the number of human genomes sequenced, new-generation sequencing allowed the creation of genome databases that are extremely useful for the diagnosis of rare genetic diseases. The study aimed to identify the gene/s responsible for a rare genetic disease in a six-year-old child born from a consanguineous marriage. The analysis of variants within the proband’s genome via whole exome sequencing revealed multiple potentially deleterious variants across various genes linked to the patient’s symptoms and implicated as possible cause of the disease. The QCI translational analysis revealed that these gene variants were both rare and homozygous, with detrimental impact on the protein production. The review of published articles on these genes as a complementary strategy to the QCI analysis indicated these genes as plausible disease-causing candidates associated with the rare genetic condition in the patient. The future direction of the study points towards further examinations, including segregation and gene expression analyses, for validating the candidate genes.