In summary, we describe two siblings carrying a homozygous TUBGCP2 variant with a severe phenotype, and show, that in addition to a neuronal migration defect, brainstem atrophy and disturbed myelination may also be associated with TUBGCP2 mutations, explaining the variable clinical and imaging findings. This evidence concerns the gene TUBGCP2 and Atrophy/Degeneration affecting the brainstem.