Abstract: Objective　To investigate the clinical characteristics and pedigree genetics of  neurodegeneration with brain iron accumulation 5. Methods　Clinical features and imaging findings of two patients with neurodegeneration with brain iron accumulation 5 were analyzed, and whole-exome sequencing was used to identify WDR45 gene mutations. Results　A ten month old male infant and a three-year-old female child had history of comprehensive development retardation, the boy had a history of suspected seizures, magnetic resonance imaging (MRI) showed progressive brain atrophy; and the girl had a history of epilepsy, cranial MRI showed slightly hyperintense on T2-weighted images and T2 Flair in the globus pallidus. Whole-exome sequencing identified a novel frameshift mutation c.276-c277insC in exon 6 of WDR45 in the boy  and a reported mutation c.19C> Tin in the girl, which were not found in both parents. Conclusion  The WDR45 gene sequencing combined with medical history and cranial MRI can be used to diagnose neurodegeneration with brain iron accumulation 5 .