This enhancer was originally described as ~60 kb-large regulatory region based on the overlap of heterozygous copy number variant (CNV) deletions detected in patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV, MIM: 265380) due to FOXF1 haploinsufficiency [17]. The gene discussed is FOXF1; the disease is alveolar capillary dysplasia with misalignment of pulmonary veins.