| Abnormal features |
Number of cases |
% |
| Severe truncal muscle hypotonia # |
13 |
100 |
| Cherry red spot § |
0 |
0 |
| Cataract |
0 |
0 |
| Retinal pigmentation |
0 |
0 |
| Convulsions |
6 |
46 |
| Excessive ticklish crying/irritability |
11 |
85 |
| Absent of head movement control |
13 |
100 |
| Head lag |
13 |
100 |
| Recurrent respiratory infections |
11 |
85 |
| Abnormal BERA test compatible with disease in the brainstem level |
13 |
100 |
| Skull deformity or flattening |
1 |
0.9 |
| Nystagmus/Strabismus |
13 |
100 |
| skin abnormality* |
0 |
0 |
| cardiac or skeletal abnormality |
0 |
0 |
| markedly increased urinary secretion of ethyl-malonic acid |
5 |
38 |
| Deceased between 1-4 years‡ |
5 |
38 |
