Fig. 2

Structural variants that are not detected by exome. A Pedigree of family F4386 with three children who died as neonates with lactic acidosis. B RT-qPCR results showing reduced transcript levels of TYMS in one of the affected individuals compared to two independent controls. C Pedigree of family F6404 with two siblings affected with microcephaly, and developmental delay. D RT-qPCR data showing reduced expression of STK25 in the two affected individuals compared to two independent control samples. E–H clinical images of the two siblings highlighting the microcephaly and lack of gross facial dysmorphism. E and F Clinical images of 20DG0785. G and H Clinical images of 20DG0786. I Genomic representation of the deletion with H3K27Ac and DNase hypersensitivity signals indicated. J Pedigree of family F3981 with two affected sisters with Leber congenital amaurosis and their affected mother with retinitis pigmentosa. K and L Widefield retinal imaging of the left and right retina of the mother (IV:2) showing rod cone dystrophy. Error bars denote standard deviation of at least 3 experiments. ****, ***, ** denote p-values < 0.0001, < 0.001, and < 0.01, respectively, using unpaired Student’s t-test