| AN | Auditory neuropathy |
| OAEs | Otoacoustic emissions |
| ABR | Auditory brainstem response |
| CM | Cochlear microphonic |
| PTA | Pure tone audiometry |
| IHC | Inner hair cell |
| ACMG | American College of Medical Genetics and Genomics |
| VUS | Variant of uncertain significance |
| LP | Likely pathogenic |
| P | Pathogenic |
| CNH | Cochlear nerve hypoplasia |
| NGS | Next generation sequencing |
| AR | Autosomal recessive |
| OMIM | Online Mendelian Inheritance in Man |