Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

Key Clinical Message Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia, cerebellar atrophy, nystagmus, and developmental delay with the least amount of intellectual disability.

Abstract licence: CC BY-NC

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