Clinically, variants in GEMIN5 have been associated with neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) syndrome (OMIM#619333) (Ibrahim et al., 2023), neurodevelopmental disorder characterized by cerebellar atrophy, developmental and cognitive delay, ataxia, motor dysfunction, and hypotonia. The gene discussed is GEMIN5; the disease is neurodevelopmental disorder.