In addition, the EMRs provided further evidence supporting the causality and high penetrance of recessive variants previously associated with cone-rod dystrophy 2 (crd2; OMIA variant ID 606; OMIA 001675–9615 [31]), spinocerebellar ataxia with myokymia and/or seizures (SCA; KCNJ10-related; OMIA variant ID 945; OMIA 002089–9615 [44]), and both the Golden Retriever (PNPLA1-related; OMIA variant ID 616; OMIA 001588–9615 [45]) and American Bulldog (NIPAL4-related; OMIA variant ID 563; OMIA 001980–9615 [35]) ichthyoses. Here, PNPLA1 is linked to Cone rod dystrophy.