ABCA3 and respiratory failure: Despite the fact that infants with biallelic loss-of-function variants in the SFTPB and ABCA3 genes phenotypically present with severe respiratory failure at birth and require lung transplantation, given their increased mortality up to 1 year of age, infants and children with other variants in the ABCA3 gene, including missense, in-frame insertions or deletions, splice sites, or variants in the SFTPC and NKX2-1 genes, show a more diverse association between genotype and phenotype and are less predictable [140,141].