Molecular cause for severe multi-organ syndrome

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.

source https://www.lifetechnology.com/blogs/life-technology-news-blog/molecular-cause-for-severe-multi-organ-syndrome