ATAD3A and Respiratory insufficiency: Biallelic deletions mediated by NAHR, most often spanning ~ 38 kb between ATAD3B and ATAD3A and less frequently ~ 67 kb between ATAD3C and ATAD3A, lead to an infantile-lethal presentation including respiratory insufficiency, neonatal seizures, congenital contractures, corneal clouding and/or edema, pontocerebellar hypoplasia, and simplified sulcation and gyration [7].