Figure 7. Hearing impairment in LRBA‐deficient patients.

1. Hearing thresholds of patient 1 (31 years old) show a sloping configuration with mild‐to‐moderate sensorineural hearing loss at low frequencies and severe impairment at high frequencies.
2. Bone conduction hearing thresholds of patient 2 (11 years old) show mild sensorineural hearing loss in the low‐ and mid‐frequency range but a drastic decline at high frequencies. Air conduction thresholds show an additional conductive hearing loss component at low frequencies, which is due to middle ear effusion.