Carriers were detected for skeletal dysplasia 2 (caused by a missense variant within the COL11A2 gene which results in mild disproportionate dwarfism), exercise-induced collapse (caused by a missense variant within the DNM1 gene), progressive rod-cone degeneration (caused by a missense variant within the PRCD gene), stargardt disease (caused by a frameshift insertion in the ABCA4 gene) and neuronal ceroid lipofuscinosis 4 A (caused by a missense variant in the ARSG gene) [41], [42], [43]. Here, ARSG is linked to CLN4A disease.