Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants

Our data demonstrated that while genetic screening readily identifies infants with hereditary deafness susceptibility, newborn hearing screening fails to detect most of these high-risk cases due to the absence or delayed onset of HL. This gap obligates long-term audiological monitoring and highlights genetic testing's critical role in enabling early surveillance for later-onset HL.