Examples are the PIGL p.L176P variant that, in compound heterozygosity, causes colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies (MIM: 280000) and the GORS2 p.V144L variant which produces progressive myoclonic epilepsy 6 (MIM: 614018). Here, PIGL is linked to coloboma.