MRPL49 and microcephaly: To summarize the clinical features of the affected individuals with MRPL49 bi-allelic variants (Figures 1B and 2), where data were accessible, the majority of affected individuals have SNHL (9/12), POI in post-pubertal females (4/6), brain white matter changes (11/11), learning disability (12/13), and microcephaly (5/8).