Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report

ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole-exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.