Intriguingly, the individuals who carry compound heterozygous variants in EMC1 seem to less frequently present with symptoms such as scoliosis, postnatal microcephaly, dysmophic features and cerebellar atrophy than the individuals who carry heterozygous or homozygous variants in EMC1 (Supplementary Table 1). Here, EMC1 is linked to Cerebellar atrophy.