GM2A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Generalized hypotonia | 100.0% | 1/1 |
| Hyperacusis | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormal thalamic MRI signal intensity | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 1/1 |
| Cherry red spot of the macula | 100.0% | 1/1 |
| Nystagmus | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Cherry red spot of the macula | 100.0% | 1/1 |