In addition, in individual RD_P417, the WGS-SV analysis detected a 3.7-kb homozygous deletion of exon 2 in C12orf65 confirming a diagnosis of autosomal recessive spastic paraplegia 55 (SPG55) (MIM 615035) (Table 4). This evidence concerns the gene MTRFR and Autosomal recessive spastic paraplegia type 55.