Of note, for a 17-year-old Turkish female with intellectual disability, bilateral SNHL requiring cochlear implants, kyphoscoliosis, and POI, a previous study suggested that the molecular explanation was a homozygous variant in PANX1. 16She was also homozygous for the same p.Arg88Cys MRPL49 missense variant as identified in F3, F4, F5, F6, and F7. Here, MRPL49 is linked to Intellectual disability.