case_images: PMC5329763_01
case_images: Family pedigree showing the consanguinity of patients' parents
case_images: ijcn-11-070-g001.jpg
case_images: PMC5329763_01_ijcn-11-070-g001.jpg
case_images: F1
case_images: He was the first child of healthy first-cousin Iranian parents whose second child had congenital microcephaly and hypotonia and died at the age of 12 months without any specific diagnosis (Figure 1).
case_images: Nucleotide change in KIAA1279 gene in patient (A) and his parents (B
case_images: ijcn-11-070-g002.jpg
case_images: PMC5329763_01_ijcn-11-070-g002.jpg
case_images: F2
case_images: Targeted sequencing on the parents showed the expected segregation pattern (Figure 2).