Fig. 2.

Phenotypes. The spectrum of reported phenotypes in otoferlin-related sensorineural hearing loss (A) was subdivided into phenotypes classified with behavioral audiometry (B), electrophysiological audiometry (C), and audiometry with unspecified methodology (D). The phenotypes of cases with absent auditory brainstem responses (ABRs) at the maximum stimulation tested are shown in (E) while the phenotypes of cases with abnormal ABRs are shown in (F). Phenotype classification was assigned based on hearing thresholds as follows: 0–25 dB, normal; 26–40 dB, mild; 41–70 dB, moderate; 71–90 dB, severe; > 90 dB, profound. NT non-truncating, T truncating