Table 1 Identified TOP3A and RMI1 Variants Associated with Microcephalic Dwarfism Nomenclature is according to transcript GenBank: NM_004618.4 for TOP3A and GenBank: NM_004618.4 and NM_024945.2 for RMI1. a Close to donor splice site of exon 10. b Previously reported individual with adult-onset mitochondrial disease.32