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. The gene discussed is GORASP1; the disease is vitreoretinal degeneration.