Table 1 Clinical features of affected individuals.
Family | AUS1 | DEU1 | DEU1 | IRN1 | SAU1 | SAU1 | USA1 | USA2 | USA3 |
|---|---|---|---|---|---|---|---|---|---|
Individual | II:3 | II:3 | II:6 | II:1 | II:1 | II:2 | II:1 | II:1 | II:2 |
Age (years) | 7 + 7 mo | 22 | 16 | 28 | 10 + 6 mo | 7 | 6 + 4 mo | 7 + 10 mo | 24 |
Sex | M | M | F | M | M | M | F | F | M |
Age at onset (years) | 1.5 | 2 | 1 | 1 | 2 | 2 | 1.7 | 2 | 17 |
ID/GDD | + | + | + | + | + | + | − | + | − |
Speech delay | + | + | + | + | + | + | + | + | + |
Neuropathy (axonal) | + | + | + | N/A | N/A | N/A | N/A | N/A | + |
Ataxia | + | + | + | − | − | − | − | − | − |
Distal muscle atrophy | + | + | + | + | − | − | − | − | + |
Hypotonia | − | − | + | + | − | − | + | + | − |
Respiratory distress | − | − | − | − | − | − | + | − | − |
Tremor | + | − | − | N/A | − | − | − | − | + |
Abnormal brain imaging | N/A | + | − | N/A | − | − | N/A | + | N/A |
Kyphosis/Scoliosis | + | + | + | − | − | − | + | − | − |
