Although we did not find a plausible diagnosis from one of the variants beyond the resolution of CMA, we did detect carriers with clinically relevant exonic deletions in genes associated with autosomal recessive disorders (e.g., deletion of exons 7–8 of CLN3; neuronal ceroid lipofuscinosis-3; Supplementary Table 9). Here, CLN3 is linked to neuronal ceroid lipofuscinosis.