Table 2 The phenotypic characteristics of inner ear malformation in WS patients
From: A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Family ID | Laterality | Cochlear | Vestibule | SSCC | LSCC | PSCC | Auditory nerve |
|---|---|---|---|---|---|---|---|
F1:III−3 | Bilaterality | Normal | Normal | Absent | Normal | Absent | Normal |
S5 | Bilaterality | Normal | Dilated | Normal | Hypoplasia | Normal | Normal |
S6 | Bilaterality | Normal | Normal | Normal | Hypoplasia | Normal | Normal |
S8 | Bilaterality | Hypoplasia | Dilated | Absent | Absent | Absent | Normal |