SRD5A3 and coloboma: These include: connective tissue involvement in ATP6AP1-CDG, midline malformations in PGM1-CDG, chronic diarrhoea in MPI-CDG, inverted nipples and abnormal fat distribution in PMM2-CDG, cataract/coloboma in SRD5A3-CDG, cerebellar hypoplasia in PMM2-CDG and SRD5A3-CDG [31, 32].