Using the International Fanconi Anemia Registry (IFAR) database to analyze 397 FA patients carrying FANCC mutations (specifically the IVS4 splice mutation in intron 4, 322delG or Q13X in exon 1 and R548X or L554P in exon 14) revealed that IVS4 and exon-14 mutations were highly correlated with severe congenital malformations and early onset of hematologic disorders at a median age of 2.7 and 2.1 years, respectively. Here, FANCC is linked to Friedreich ataxia.