Homozygotes displayed FA‐like phenotypes including growth retardation, microphthalmia, craniofacial malformations and hypogonadism. Homozygous females demonstrate premature reproductive senescence and an increased incidence of ovarian cysts. Homozygous males exhibit an elevated frequency of mis‐paired meiotic chromosomes and increased apoptosis in germ cells, implicating a role for Fanca in meiotic recombination. Fancc‐/‐ Fanca‐/‐ display the same phenotype as the single mutants suggesting that these two genes are epistatic. The gene discussed is FANCA; the disease is microphthalmia.