BLM and Friedreich ataxia: In 16/60 (26%) of the SPS patients, we found variants in genes encoding for proteins of the Fanconi Anemia (FA) pathway (BLM, BRCA1, FAN1, FANCA, FANCD2, FANCL, PALB2, RAD50, RAD51C, RAD51D), that are involved in the DNA Interstrand-Cross Link repair (DNA-ICLR).