Table 1 Summary of clinical characteristics for affected WS patients
From: A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Family ID | Family member | Sex | Age | Clinical diagnosis | Severity of HL | Dystopia Canthorum | Premature white hair | Freckles | Heterochromia iridis | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
Left | Right | Left | Right | ||||||||
F-1 | II-4 | F | 24 | WS2 | Profound | Profound | − | − | − | + | + |
III-3 | M | 1 | WS2 | Profound | Profound | − | − | − | + | + | |
F-2 | II-1 | F | 56 | WS1 | Normal | Normal | + | − | − | + | + |
II-5 | M | 38 | WS1 | Profound | Normal | + | − | − | + | + | |
III-1 | F | 26 | WS1 | Normal | Normal | + | − | − | − | + | |
III-3 | M | 21 | WS1 | Normal | Normal | + | − | − | + | + | |
III-5 | F | 20 | WS1 | Severe | Severe | + | − | − | + | − | |
III-8 | F | 15 | WS1 | Normal | Profound | + | − | − | + | + | |
III-9 | M | 6 | WS1 | Profound | Profound | + | − | − | + | + | |
IV-1 | M | 2 | WS1 | Profound | Profound | + | − | − | + | + | |
F-3 | II-2 | M | 34 | WS1 | Normal | Profound | + | − | − | + | + |
III-1 | M | 4 | WS1 | Profound | Profound | + | − | − | + | + | |
S-4 | – | M | 24 | WS1 | Normal | Profound | + | − | − | + | − |
S-5 | – | M | 9 | WS2 | Profound | Profound | − | − | − | + | + |
S-6 | − | F | 1 | WS2 | Profound | Profound | − | − | − | + | − |
S-7 | – | M | 6 | WS1 | Profound | Profound | + | − | + | + | + |
S-8 | – | F | 1.5 | WS2 | Profound | Profound | − | − | − | − | + |