Here, we report on individuals from nine unrelated families with bi-allelic variants in MRPL49 (MIM: 606866) characterized by diverse clinical phenotypes encompassing bilateral sensorineural hearing loss (SNHL) and primary ovarian insufficiency (POI; Perrault syndrome, MIM: 233400), microcephaly, learning disability, developmental delay, leukodystrophy, and retinal disease. Here, MRPL49 is linked to microcephaly.