Suzanne de Bruijn

251 Exploring the missing heritability in subjects with hearing loss and EVA Table 4. Continued Case Class Gender Age of onset (yr) Otoscopic examination Newborn hearing screening Motor development Imaging Audiometric evaluation CT MRI Subject age (yr) PTA (0.5-4kHz) R L SLC036 F PC N NA NR B EVA 20 73 68 SLC040 M U N U N U EVA L 7 5 78 SLC056 M PC N NA NR B EVA 14 108 93 SLC071 M PC N N N B EVA 3 85 NT SLC078 F PC N NA U B EVA 10 114 93 SLC079 F C N R N B EVA 2 110 108 SLC048 M2 M PC N NA NR B EVA 8 105 71 SLC085 M C N R N B EVA 2 23 85 SLC087 F C N R Delayed B EVA 5 65 63 SLC088 F 4 N NA N B EVA 17 85 105 SLC089 M U N U U B EVA 10 58 98 SLC090 F 3 N NA U B EVA 41 116 110 SLC091 F 2-4 N N Delayed B EVA 12 63 69 SLC092 F C N R N B EVA 4 79 48 SLC093 M PC N U Delayed B EVA 8 71 98 SLC094 M PC sclerotic eardrum L NA U B EVA 37 101 113 SLC095 F C N R N B EVA 1 NT 89 Age of onset (AoO), age of onset in years as reported by the subjects. Subject age, the age at which the audiometric data of the last two columns were obtained, in general the last audiogram. Newborn hearing screening was introduced in the Netherlands in 2006. *only written report available. Y, years; PTA, pure tone average, mean of 0.5, 1, 2 and 4 kHz air conduction thresholds; M, male; F, female; R, right; L, left, PC, age of onset of HL is presumably congenital, based on anamnesis; C, age of onset of HL is congenital, based on newborn hearing screening; PS, subject reported onset of HL during primary school, exact age unknown; NR, not reported; NT, not tested; N, no abnormalities; R, refer in newborn hearing screening, failed in test; U, unknown, CT, computed tomography; MRI, magnetic resonance imaging; U EVA L/R, unilateral enlarged vestibular aqueduct in left or right ear; B EVA, bilateral enlarged vestibular aqueduct.