GORASP1 and neurodevelopmental disorder: In this study, we report the first biallelic human variant of GORASP1, leading to a complete absence of the GRASP65 protein, and show that this loss of function is associated with a neurodevelopmental disorder with white matter abnormalities, neurosensory defects leading to progressive deafness and high myopia with vitreoretinal degeneration, neuromuscular contractures, truncal obesity, and mild skeletal abnormalities.