Two pathogenic homozygous mutations of 2 different diseases were reported in two unrelated patients; one is a novel mutation c.626A > C (p.Tyr209Ser) in gene YIF1B in one patient with suspected symptoms of Kaya-Barakat-Masson syndrome, and the other one is a reported mutation c.1039G > A (p.Gly347Arg) in PLA2G6 gene in one patient of pre-diagnosed symptoms of infantile neuroaxonal dystrophy disease. The gene discussed is PLA2G6; the disease is Kaya-Barakat-Masson syndrome.