Despite phenotypic similarities between NGLY1 deficiency and CDGs, analysis of this cohort clarified that the overall phenotypic presentation of NGLY1 deficiency is distinct from that of CDGs; for example, NGLY1 deficiency does not seem to cause cerebellar atrophy, lipodystrophy, or significant cardiac phenotypes, all of which are present in many CDGs [11,36]. The gene discussed is NGLY1; the disease is Cerebellar atrophy.