In addition to the specified genes in the 2018 HL-EP guidelines, specific phenotypes with hearing loss can be manifested in OPA1 with auditory neuropathy spectrum disorder, ATP1A3 with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss)22, NLRP3 with an AD systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes23, COL4A4 with Alport syndrome24, PTPN11 with Noonan syndrome25, and EFTUD2 with mandibulofacial dysostosis with microcephaly26. Here, COL4A4 is linked to mandibulofacial dysostosis.