| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 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 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Developmental cataract | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Abnormal left ventricular function | 100.0% | 1/1 |
| Congestive heart failure | 100.0% | 1/1 |
| Dilated cardiomyopathy | 100.0% | 1/1 |
| Prolonged partial thromboplastin time | 100.0% | 1/1 |
| Sudden cardiac death | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 1/1 |
| Abnormal renal collecting system morphology | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 100.0% | 1/1 |
| Hyperglutaminemia | 100.0% | 1/1 |
| Hypermethioninemia | 100.0% | 1/1 |
| Hyperalaninemia | 100.0% | 1/1 |
| Lactic acidosis | 100.0% | 1/1 |
| Metabolic acidosis | 100.0% | 1/1 |