Twenty-eight mutations have been detected in genes (CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, CLN13, CLN14, and CLCN2) of 28 unrelated NCL patients [17]; one mutation was found in YIF1B gene in one patient with symptoms of Kaya-Barakat-Masson syndrome, and one was illustrated in PLA2G6 gene of one patient with suspected to have infantile neuroaxonal dystrophy disease, and 7 cases required whole genome sequencing for further molecular investigation [18]. Here, KCTD7 is linked to Kaya-Barakat-Masson syndrome.