Haploinsufficiency of OTX2, due to heterozygous absence of the entire gene, within both identified chromosomal deletions del(14)(q22.2–23.31) and del(14)(q22.1q23.1), was predicted to be the most likely pathogenic cause for the CH and eye defects described in patients 1 and 2. The gene discussed is OTX2; the disease is cyclic hematopoiesis.