Individual | c.103 | Sex (M/F) | Onset | Distal weakness | DTR | Kinky hair | Foot deformity | Nystagmus | MRI white matter changes | Ataxia | Other features |
---|---|---|---|---|---|---|---|---|---|---|---|
Affected Individuals | |||||||||||
III:2* | T/T | M | 1st decade | +++ | - UE | - | Yes | No | N/A | No | Facial weakness. Speech difficulties |
+ pat | |||||||||||
- acill | |||||||||||
III:12 | T/T | M | 1st decade | +++ | + | - | Yes | No | N/A | No | |
IV:14 | T/T | M | 6y | ++ | + | - | Yes | No | No | No | |
IV:15 | T/T | M | 6y | ++ | + | - | Yes | No | No | No | |
IV:18 | T/T | M | 4y | + | ++ | curly | Yes | No | No | No | |
Unaffected Individuals | |||||||||||
III:1 | G/G | F | - | - | ++ | - | No | No | N/A | No | |
III:9 | G/G | M | - | - | ++ | - | No | No | N/A | No | |
III:11 | G/T | M | - | ++ | - | No | No | N/A | No | ||
III:13 | G/T | F | - | - | ++ | - | No | No | N/A | No | |
IV:1 | G/T | F | - | - | ++ | - | No | No | N/A | No | |
IV:2 | G/T | F | - | - | ++ | - | No | No | N/A | No | |
IV:3 | G/T | F | - | - | ++ | - | No | No | N/A | No | |
IV:16 | G/T | F | - | - | ++ | - | No | No | N/A | No | |
IV:17 | G/T | M | - | - | ++ | - | No | No | N/A | No |