In the case of subunits of the GINS complex, GINS1 variants have been identified in patients with primordial dwarfism accompanied by immune deficiencies, specifically a NK cell deficiency and chronic neutropenia (33), while a biallelic GINS2 variant has been identified in a patient with typical MGS symptoms, namely primordial dwarfism, microcephaly, and small ears but no immunodeficiency (28). Here, GINS1 is linked to Mungan syndrome.