In this study, we report on a group of 6 patients with an identical OSGEP gene mutation (c.740G > A transition) who exhibited a uniform clinical phenotype with early-onset SRNS, craniofacial and skeletal dysmorphism, primary microcephaly with cerebral pachygyria, and early death before 2 years of age. This evidence concerns the gene OSGEP and Primary microcephaly.