According to a genotype–phenotype association analysis, short stature was more frequent in patients with null PVs and those with PVs in downstream genes, whereas microcephaly was associated with null genotypes irrespective of the gene and patients with PVs in FANCD1, FANCD2, FANCJ, ID2 complex, and downstream genes (37). The gene discussed is BRIP1; the disease is microcephaly.